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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | High incidence of epithelial cancers in mice deficient for DNA polymerase delta proofreading. | Goldsby RE, etal., Proc Natl Acad Sci U S A 2002 Nov 26;99(24):15560-5. Epub 2002 Nov 12. |
3. | DNA polymerases and repair synthesis in NER in human cells. | Lehmann AR DNA Repair (Amst). 2011 Jul 15;10(7):730-3. doi: 10.1016/j.dnarep.2011.04.023. Epub 2011 May 20. |
4. | Mechanisms and functions of DNA mismatch repair. | Li GM Cell Res. 2008 Jan;18(1):85-98. |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | Reactome: A Knowledgebase of Biological Processes | Reactome |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
10. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
11. | POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas. | Rosner G, etal., Dis Colon Rectum. 2018 Sep;61(9):1073-1079. doi: 10.1097/DCR.0000000000001150. |
12. | POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East. | Siraj AK, etal., Mol Genet Genomic Med. 2020 Aug;8(8):e1368. doi: 10.1002/mgg3.1368. Epub 2020 Jun 22. |
13. | Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer. | Song X, etal., Sci Rep. 2017 Sep 18;7(1):11785. doi: 10.1038/s41598-017-08257-7. |
14. | Multiple microarray analyses identify key genes associated with the development of Non-Small Cell Lung Cancer from Chronic Obstructive Pulmonary Disease. | Zhang L, etal., J Cancer. 2021 Jan 1;12(4):996-1010. doi: 10.7150/jca.51264. eCollection 2021. |
PMID:1427831 | PMID:1542570 | PMID:1722322 | PMID:1730053 | PMID:2436659 | PMID:3146346 | PMID:3335506 | PMID:7490075 | PMID:8889549 | PMID:9030545 | PMID:9111189 | PMID:9286699 |
PMID:9545286 | PMID:9563011 | PMID:9620226 | PMID:10559260 | PMID:10559261 | PMID:10608806 | PMID:10852724 | PMID:11114723 | PMID:11328591 | PMID:11473323 | PMID:11595739 | PMID:11923315 |
PMID:12171929 | PMID:12220650 | PMID:12393188 | PMID:12403614 | PMID:12477932 | PMID:12530964 | PMID:12806015 | PMID:14767555 | PMID:14988403 | PMID:15113441 | PMID:15489334 | PMID:15670210 |
PMID:15805117 | PMID:15995249 | PMID:16169070 | PMID:16226712 | PMID:16488880 | PMID:16510448 | PMID:16543152 | PMID:16762037 | PMID:16934752 | PMID:17203305 | PMID:17314511 | PMID:17353931 |
PMID:17474147 | PMID:18270339 | PMID:18676680 | PMID:18701435 | PMID:19170196 | PMID:19237606 | PMID:19329428 | PMID:19557333 | PMID:19625176 | PMID:19692168 | PMID:19913121 | PMID:19946888 |
PMID:20070946 | PMID:20226869 | PMID:20227374 | PMID:20334433 | PMID:20467437 | PMID:20496165 | PMID:20541997 | PMID:20574454 | PMID:20628086 | PMID:20713449 | PMID:20811636 | PMID:21044950 |
PMID:21081503 | PMID:21145461 | PMID:21415862 | PMID:21705323 | PMID:21873635 | PMID:21918226 | PMID:22465957 | PMID:22678361 | PMID:22678362 | PMID:22761421 | PMID:22863883 | PMID:22887995 |
PMID:22915169 | PMID:22939629 | PMID:22942285 | PMID:23251661 | PMID:23254330 | PMID:23263490 | PMID:23447401 | PMID:23528559 | PMID:23585564 | PMID:23738518 | PMID:23770608 | PMID:23891004 |
PMID:24191025 | PMID:24270157 | PMID:24457600 | PMID:24501277 | PMID:24509466 | PMID:24768535 | PMID:24939902 | PMID:24958773 | PMID:25241845 | PMID:25315684 | PMID:25370038 | PMID:25921289 |
PMID:26087769 | PMID:26133394 | PMID:26172944 | PMID:26186194 | PMID:26271349 | PMID:26344197 | PMID:26496610 | PMID:26508657 | PMID:26648449 | PMID:26673895 | PMID:26748215 | PMID:26755646 |
PMID:26972000 | PMID:27025967 | PMID:27173435 | PMID:27320729 | PMID:27565346 | PMID:27684187 | PMID:27849570 | PMID:27871366 | PMID:27974823 | PMID:28178521 | PMID:28218421 | PMID:28306219 |
PMID:28368425 | PMID:28380382 | PMID:28512192 | PMID:28514442 | PMID:28515276 | PMID:28521875 | PMID:28605669 | PMID:28675297 | PMID:28757209 | PMID:28916777 | PMID:28934474 | PMID:28976792 |
PMID:28986522 | PMID:29150431 | PMID:29357390 | PMID:29467282 | PMID:29507755 | PMID:29509190 | PMID:29568061 | PMID:29656893 | PMID:29768346 | PMID:29807012 | PMID:29844126 | PMID:29884807 |
PMID:29955894 | PMID:30033366 | PMID:30196744 | PMID:30463901 | PMID:30585266 | PMID:30625304 | PMID:30833792 | PMID:30895337 | PMID:30945288 | PMID:30948266 | PMID:31091453 | PMID:31278166 |
PMID:31326365 | PMID:31343991 | PMID:31391242 | PMID:31449058 | PMID:31527615 | PMID:31586398 | PMID:31629014 | PMID:31673068 | PMID:31750734 | PMID:31753913 | PMID:31944473 | PMID:31950832 |
PMID:31980649 | PMID:32023453 | PMID:32265515 | PMID:32296183 | PMID:32416067 | PMID:32432416 | PMID:32433965 | PMID:32698014 | PMID:32786267 | PMID:32792570 | PMID:32807901 | PMID:32814769 |
PMID:32838362 | PMID:33077594 | PMID:33140240 | PMID:33157085 | PMID:33239621 | PMID:33618333 | PMID:33853758 | PMID:33957083 | PMID:33961781 | PMID:34011540 | PMID:34079125 | PMID:34250404 |
PMID:34285382 | PMID:34373451 | PMID:34517090 | PMID:34530183 | PMID:34586735 | PMID:34594041 | PMID:34841685 | PMID:34954152 | PMID:35032548 | PMID:35110507 | PMID:35256949 | PMID:35271311 |
PMID:35439318 | PMID:35446349 | PMID:35478106 | PMID:35509820 | PMID:35563538 | PMID:35620275 | PMID:35780178 | PMID:35817971 | PMID:35831314 | PMID:35944360 | PMID:36114006 | PMID:36215168 |
PMID:36398662 | PMID:36424410 | PMID:36537216 | PMID:36538041 | PMID:36732658 | PMID:37105989 | PMID:37107532 | PMID:37689310 | PMID:37827155 | PMID:37990341 | PMID:38113892 | PMID:38231514 |
PMID:38423601 |
POLD1 (Homo sapiens - human) |
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Pold1 (Mus musculus - house mouse) |
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Pold1 (Rattus norvegicus - Norway rat) |
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Pold1 (Chinchilla lanigera - long-tailed chinchilla) |
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POLD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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POLD1 (Canis lupus familiaris - dog) |
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Pold1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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POLD1 (Sus scrofa - pig) |
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Pold1 (Heterocephalus glaber - naked mole-rat) |
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Variants in POLD1
4386 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_002691.4(POLD1):c.2439C>G (p.Leu813=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544318] | Chr19:50414865 [GRCh38] Chr19:50918122 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2959G>A (p.Asp987Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544796]|not provided [RCV001576587]|not specified [RCV003321660] | Chr19:50416615 [GRCh38] Chr19:50919872 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.771C>T (p.Asp257=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000545588]|Hereditary cancer-predisposing syndrome [RCV002404495] | Chr19:50402466 [GRCh38] Chr19:50905723 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1578C>T (p.Leu526=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546256] | Chr19:50407066 [GRCh38] Chr19:50910323 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970G>T (p.Gly324Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546411] | Chr19:50402741 [GRCh38] Chr19:50905998 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.323C>T (p.Ala108Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546732]|not provided [RCV000759956]|not specified [RCV003321661] | Chr19:50401784 [GRCh38] Chr19:50905041 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1857C>T (p.Thr619=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002060488]|Hereditary cancer-predisposing syndrome [RCV000561281] | Chr19:50408866 [GRCh38] Chr19:50912123 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.269A>T (p.Gln90Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547586]|Hereditary cancer-predisposing syndrome [RCV002456170] | Chr19:50399437 [GRCh38] Chr19:50902694 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2821-4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550348]|Hereditary cancer-predisposing syndrome [RCV000561513]|not specified [RCV002268153] | Chr19:50416392 [GRCh38] Chr19:50919649 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1278C>T (p.Gly426=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001416982]|Hereditary cancer-predisposing syndrome [RCV000567698]|not specified [RCV000606370] | Chr19:50406217 [GRCh38] Chr19:50909474 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1605G>C (p.Met535Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858338]|Hereditary cancer-predisposing syndrome [RCV000563591] | Chr19:50407093 [GRCh38] Chr19:50910350 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1528G>A (p.Val510Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555106]|Hereditary cancer-predisposing syndrome [RCV000570915] | Chr19:50407016 [GRCh38] Chr19:50910273 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550696]|not provided [RCV001704676] | Chr19:50417164 [GRCh38] Chr19:50920421 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.534G>C (p.Gly178=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000552090]|Hereditary cancer-predisposing syndrome [RCV002257815]|not provided [RCV001722501]|not specified [RCV000606785] | Chr19:50402069 [GRCh38] Chr19:50905326 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1567C>T (p.Leu523=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640915]|Hereditary cancer-predisposing syndrome [RCV000563779] | Chr19:50407055 [GRCh38] Chr19:50910312 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1034G>T (p.Gly345Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002526887]|Hereditary cancer-predisposing syndrome [RCV000567737] | Chr19:50403116 [GRCh38] Chr19:50906373 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2931C>T (p.Gly977=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527016]|Hereditary cancer-predisposing syndrome [RCV000574238]|not specified [RCV003321659] | Chr19:50416506 [GRCh38] Chr19:50919763 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.965G>T (p.Arg322Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553388]|Hereditary cancer-predisposing syndrome [RCV002377119] | Chr19:50402736 [GRCh38] Chr19:50905993 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555056]|Colorectal cancer, susceptibility to, 10 [RCV000764230]|Hereditary cancer-predisposing syndrome [RCV002438435] | Chr19:50415766 [GRCh38] Chr19:50919023 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-1-256A>G | single nucleotide variant | not provided [RCV001581952] | Chr19:50398595 [GRCh38] Chr19:50901852 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2019G>A (p.Glu673=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645937]|Hereditary cancer-predisposing syndrome [RCV000564146]|POLD1-related condition [RCV003952918] | Chr19:50409531 [GRCh38] Chr19:50912788 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1298A>T (p.Asp433Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001309129]|Hereditary cancer-predisposing syndrome [RCV000565592]|not provided [RCV003105969] | Chr19:50406237 [GRCh38] Chr19:50909494 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000764222]|Colorectal cancer, susceptibility to, 10 [RCV000796666]|Hereditary cancer-predisposing syndrome [RCV000565810] | Chr19:50407004 [GRCh38] Chr19:50910261 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1134G>A (p.Leu378=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000558448]|Hereditary cancer-predisposing syndrome [RCV002324001] | Chr19:50403216 [GRCh38] Chr19:50906473 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.798G>A (p.Leu266=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687065]|Hereditary cancer-predisposing syndrome [RCV000562380] | Chr19:50402493 [GRCh38] Chr19:50905750 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.831G>A (p.Leu277=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001494078]|Hereditary cancer-predisposing syndrome [RCV000562679] | Chr19:50402526 [GRCh38] Chr19:50905783 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.318C>A (p.Gly106=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000937690]|Hereditary cancer-predisposing syndrome [RCV000562685] | Chr19:50401779 [GRCh38] Chr19:50905036 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.114G>A (p.Leu38=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645914]|Hereditary cancer-predisposing syndrome [RCV000566152] | Chr19:50398965 [GRCh38] Chr19:50902222 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2938G>A (p.Glu980Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541764]|Hereditary cancer-predisposing syndrome [RCV002438441]|not provided [RCV000759234] | Chr19:50416513 [GRCh38] Chr19:50919770 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2038C>G (p.Pro680Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541883]|Hereditary cancer-predisposing syndrome [RCV003159856]|not provided [RCV003317273] | Chr19:50409550 [GRCh38] Chr19:50912807 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2784T>C (p.Ser928=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543834]|Hereditary cancer-predisposing syndrome [RCV002438437]|POLD1-related condition [RCV003900196] | Chr19:50415790 [GRCh38] Chr19:50919047 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1178T>C (p.Ile393Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528187]|Hereditary cancer-predisposing syndrome [RCV000568712]|not provided [RCV001577470] | Chr19:50403533 [GRCh38] Chr19:50906790 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.534G>T (p.Gly178=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645809]|Hereditary cancer-predisposing syndrome [RCV000568277]|not provided [RCV000606039] | Chr19:50402069 [GRCh38] Chr19:50905326 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544565]|Familial colorectal cancer [RCV000709585]|not provided [RCV003327416] | Chr19:50403191 [GRCh38] Chr19:50906448 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.61G>T (p.Gly21Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546801] | Chr19:50398912 [GRCh38] Chr19:50902169 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+5del | deletion | Hereditary cancer-predisposing syndrome [RCV000566372] | Chr19:50407179 [GRCh38] Chr19:50910436 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1782C>T (p.Tyr594=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645928]|Hereditary cancer-predisposing syndrome [RCV000566382]|not specified [RCV003493658] | Chr19:50408791 [GRCh38] Chr19:50912048 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2507A>G (p.Asn836Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548201]|Hereditary cancer-predisposing syndrome [RCV002431649] | Chr19:50414933 [GRCh38] Chr19:50918190 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2686G>A (p.Gly896Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548499]|Hereditary cancer-predisposing syndrome [RCV002431654]|not provided [RCV001549934] | Chr19:50415559 [GRCh38] Chr19:50918816 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1734C>T (p.Gly578=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000549189]|Hereditary cancer-predisposing syndrome [RCV002404493]|not specified [RCV003321658] | Chr19:50407374 [GRCh38] Chr19:50910631 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1183G>A (p.Gly395Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858337]|Hereditary cancer-predisposing syndrome [RCV000566498]|not specified [RCV002268192] | Chr19:50403538 [GRCh38] Chr19:50906795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-4dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001360772]|Hereditary cancer-predisposing syndrome [RCV000568556] | Chr19:50403048..50403049 [GRCh38] Chr19:50906305..50906306 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2938_2948dup (p.Leu984fs) | duplication | Hereditary cancer-predisposing syndrome [RCV000568586] | Chr19:50416512..50416513 [GRCh38] Chr19:50919769..50919770 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.671G>A (p.Arg224His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000549474]|not provided [RCV002281109] | Chr19:50402286 [GRCh38] Chr19:50905543 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1504_1506del (p.Asp502del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000551345] | Chr19:50406990..50406992 [GRCh38] Chr19:50910247..50910249 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3318C>T (p.Ala1106=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001424292]|Hereditary cancer-predisposing syndrome [RCV000566646] | Chr19:50417941 [GRCh38] Chr19:50921198 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2593C>T (p.Gln865Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003117340]|Hereditary cancer-predisposing syndrome [RCV000566701] | Chr19:50415466 [GRCh38] Chr19:50918723 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2415C>A (p.Ser805Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551873] | Chr19:50414841 [GRCh38] Chr19:50918098 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2616G>A (p.Leu872=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546892]|Hereditary cancer-predisposing syndrome [RCV000561954]|POLD1-related condition [RCV003915583]|not provided [RCV001577997] | Chr19:50415489 [GRCh38] Chr19:50918746 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554515]|not provided [RCV000759961] | Chr19:50401819 [GRCh38] Chr19:50905076 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+7_2717+24del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000555747] | Chr19:50415593..50415610 [GRCh38] Chr19:50918850..50918867 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2256G>A (p.Val752=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001493035]|Hereditary cancer-predisposing syndrome [RCV000562075] | Chr19:50413747 [GRCh38] Chr19:50917004 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2334C>T (p.Ala778=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001088973]|Hereditary cancer-predisposing syndrome [RCV000574486]|not provided [RCV000679494] | Chr19:50413825 [GRCh38] Chr19:50917082 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.640G>A (p.Val214Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000556736]|not provided [RCV001548496] | Chr19:50402255 [GRCh38] Chr19:50905512 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.463+6T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560596]|not provided [RCV001591248]|not specified [RCV001779001] | Chr19:50401930 [GRCh38] Chr19:50905187 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2607G>A (p.Ser869=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001397042]|Hereditary cancer-predisposing syndrome [RCV000563024]|not specified [RCV000600522] | Chr19:50415480 [GRCh38] Chr19:50918737 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.45A>G (p.Pro15=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001465336]|Hereditary cancer-predisposing syndrome [RCV000563204] | Chr19:50398896 [GRCh38] Chr19:50902153 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1127A>G (p.Asp376Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001368481]|Hereditary cancer-predisposing syndrome [RCV000565645]|not provided [RCV001770515] | Chr19:50403209 [GRCh38] Chr19:50906466 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001365624]|Hereditary cancer-predisposing syndrome [RCV000563339] | Chr19:50403220 [GRCh38] Chr19:50906477 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2218A>G (p.Thr740Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544962]|Hereditary cancer-predisposing syndrome [RCV002431647] | Chr19:50413489 [GRCh38] Chr19:50916746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.685C>G (p.Gln229Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000542581] | Chr19:50402300 [GRCh38] Chr19:50905557 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1223C>G (p.Ser408Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000542131]|Hereditary cancer-predisposing syndrome [RCV001010411]|not provided [RCV000985920] | Chr19:50403578 [GRCh38] Chr19:50906835 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-5G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561840] | Chr19:50384387 [GRCh38] Chr19:50887644 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2334C>A (p.Ala778=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540020]|Hereditary cancer-predisposing syndrome [RCV000561908]|not specified [RCV000601209] | Chr19:50413825 [GRCh38] Chr19:50917082 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.953A>C (p.Glu318Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554555]|Hereditary cancer-predisposing syndrome [RCV001019469] | Chr19:50402724 [GRCh38] Chr19:50905981 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1069C>T (p.Leu357=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554681]|Hereditary cancer-predisposing syndrome [RCV002413569] | Chr19:50403151 [GRCh38] Chr19:50906408 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3317C>T (p.Ala1106Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554740] | Chr19:50417940 [GRCh38] Chr19:50921197 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.568G>A (p.Val190Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555082]|Hereditary cancer-predisposing syndrome [RCV002350315]|not provided [RCV003156253] | Chr19:50402103 [GRCh38] Chr19:50905360 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645943]|Hereditary cancer-predisposing syndrome [RCV000562022]|not provided [RCV003228961] | Chr19:50413737 [GRCh38] Chr19:50916994 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1590G>A (p.Val530=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002060490]|Hereditary cancer-predisposing syndrome [RCV000562171] | Chr19:50407078 [GRCh38] Chr19:50910335 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3030C>T (p.Asn1010=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557893]|Hereditary cancer-predisposing syndrome [RCV002438443] | Chr19:50416686 [GRCh38] Chr19:50919943 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1211C>T (p.Pro404Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527107]|Hereditary cancer-predisposing syndrome [RCV000562266] | Chr19:50403566 [GRCh38] Chr19:50906823 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1933G>A (p.Glu645Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000558260]|Hereditary cancer-predisposing syndrome [RCV002413571] | Chr19:50409162 [GRCh38] Chr19:50912419 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1382A>G (p.Gln461Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000558655] | Chr19:50406321 [GRCh38] Chr19:50909578 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858336]|Hereditary cancer-predisposing syndrome [RCV000562574] | Chr19:50407326 [GRCh38] Chr19:50910583 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1115A>G (p.Glu372Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645813]|Hereditary cancer-predisposing syndrome [RCV000562810] | Chr19:50403197 [GRCh38] Chr19:50906454 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.942C>T (p.Ser314=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001484947]|Hereditary cancer-predisposing syndrome [RCV000563827] | Chr19:50402713 [GRCh38] Chr19:50905970 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2925C>T (p.Gly975=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528402]|Hereditary cancer-predisposing syndrome [RCV000570959]|not provided [RCV002289764] | Chr19:50416500 [GRCh38] Chr19:50919757 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2364G>A (p.Ser788=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528729]|Hereditary cancer-predisposing syndrome [RCV000567991] | Chr19:50413855 [GRCh38] Chr19:50917112 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2224G>C (p.Glu742Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000559763]|Hereditary cancer-predisposing syndrome [RCV002431648] | Chr19:50413495 [GRCh38] Chr19:50916752 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.774G>A (p.Thr258=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560127]|Hereditary cancer-predisposing syndrome [RCV002413572] | Chr19:50402469 [GRCh38] Chr19:50905726 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1384G>A (p.Val462Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000801809]|Hereditary cancer-predisposing syndrome [RCV000563151] | Chr19:50406407 [GRCh38] Chr19:50909664 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.399G>A (p.Glu133=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645866]|Hereditary cancer-predisposing syndrome [RCV000563293]|not specified [RCV000607832] | Chr19:50401860 [GRCh38] Chr19:50905117 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2250+4G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000542862] | Chr19:50413525 [GRCh38] Chr19:50916782 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1859C>T (p.Thr620Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543233]|Hereditary cancer-predisposing syndrome [RCV002413570] | Chr19:50408868 [GRCh38] Chr19:50912125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.590-10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082177]|not provided [RCV000679524]|not specified [RCV002465707] | Chr19:50402195 [GRCh38] Chr19:50905452 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.735G>A (p.Glu245=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701686]|Hereditary cancer-predisposing syndrome [RCV000561003] | Chr19:50402350 [GRCh38] Chr19:50905607 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1375A>G (p.Met459Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543995]|Hereditary cancer-predisposing syndrome [RCV002384181] | Chr19:50406314 [GRCh38] Chr19:50909571 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547675] | Chr19:50399363 [GRCh38] Chr19:50902620 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548610] | Chr19:50399365 [GRCh38] Chr19:50902622 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1205A>G (p.Asp402Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548855]|Hereditary cancer-predisposing syndrome [RCV001010322] | Chr19:50403560 [GRCh38] Chr19:50906817 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.519C>G (p.Ser173Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548910] | Chr19:50402054 [GRCh38] Chr19:50905311 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.650C>T (p.Pro217Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000549805]|not provided [RCV001552129] | Chr19:50402265 [GRCh38] Chr19:50905522 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2076G>A (p.Ala692=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000526108]|Hereditary cancer-predisposing syndrome [RCV000569867]|not specified [RCV000605040] | Chr19:50409588 [GRCh38] Chr19:50912845 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2745G>A (p.Ala915=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000529856]|Hereditary cancer-predisposing syndrome [RCV000572788] | Chr19:50415751 [GRCh38] Chr19:50919008 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2927A>T (p.Glu976Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548789]|Hereditary cancer-predisposing syndrome [RCV002438440] | Chr19:50416502 [GRCh38] Chr19:50919759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2994G>A (p.Lys998=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543417] | Chr19:50416650 [GRCh38] Chr19:50919907 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.381C>T (p.Ala127=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645922]|Hereditary cancer-predisposing syndrome [RCV000564172] | Chr19:50401842 [GRCh38] Chr19:50905099 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.177G>A (p.Gln59=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086173]|Hereditary cancer-predisposing syndrome [RCV000567320]|POLD1-related condition [RCV003935478]|not provided [RCV000827273] | Chr19:50399028 [GRCh38] Chr19:50902285 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.230C>G (p.Pro77Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550145]|not specified [RCV002248772] | Chr19:50399398 [GRCh38] Chr19:50902655 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2361G>A (p.Pro787=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550300]|Hereditary cancer-predisposing syndrome [RCV002255452] | Chr19:50413852 [GRCh38] Chr19:50917109 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551879]|not specified [RCV002268154] | Chr19:50403045 [GRCh38] Chr19:50906302 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000552585] | Chr19:50417272 [GRCh38] Chr19:50920529 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.694C>T (p.Arg232Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000552646] | Chr19:50402309 [GRCh38] Chr19:50905566 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2606C>T (p.Ser869Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553582]|not provided [RCV001770452] | Chr19:50415479 [GRCh38] Chr19:50918736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.549T>C (p.Thr183=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555311]|Hereditary cancer-predisposing syndrome [RCV002350312] | Chr19:50402084 [GRCh38] Chr19:50905341 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1434C>T (p.Ser478=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001472515]|Hereditary cancer-predisposing syndrome [RCV000566190] | Chr19:50406457 [GRCh38] Chr19:50909714 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.493C>T (p.Gln165Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001062594]|Hereditary cancer-predisposing syndrome [RCV000562117]|not provided [RCV000657703] | Chr19:50402028 [GRCh38] Chr19:50905285 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1791C>T (p.Pro597=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001080022]|Hereditary cancer-predisposing syndrome [RCV000574765]|Polymerase proofreading-related adenomatous polyposis [RCV001355779]|not provided [RCV000842151]|not specified [RCV002268152] | Chr19:50408800 [GRCh38] Chr19:50912057 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.454G>C (p.Ala152Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557389] | Chr19:50401915 [GRCh38] Chr19:50905172 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-8del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000557395]|not provided [RCV003478164] | Chr19:50403485 [GRCh38] Chr19:50906742 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2284C>A (p.Arg762=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858378]|Hereditary cancer-predisposing syndrome [RCV000565245] | Chr19:50413775 [GRCh38] Chr19:50917032 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1117A>G (p.Lys373Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645803]|Hereditary cancer-predisposing syndrome [RCV000566465]|not provided [RCV001284038] | Chr19:50403199 [GRCh38] Chr19:50906456 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.606C>T (p.His202=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001080343]|Hereditary cancer-predisposing syndrome [RCV000566471]|POLD1-related condition [RCV003905414]|not provided [RCV000558270] | Chr19:50402221 [GRCh38] Chr19:50905478 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1401C>T (p.Tyr467=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002060487]|Hereditary cancer-predisposing syndrome [RCV000566743] | Chr19:50406424 [GRCh38] Chr19:50909681 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2862G>A (p.Thr954=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000870831]|Hereditary cancer-predisposing syndrome [RCV000566829]|not provided [RCV001722532] | Chr19:50416437 [GRCh38] Chr19:50919694 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3289C>T (p.Arg1097Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543982]|Hereditary cancer-predisposing syndrome [RCV002448733]|not provided [RCV000985934] | Chr19:50417912 [GRCh38] Chr19:50921169 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.834G>A (p.Lys278=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001495708]|Hereditary cancer-predisposing syndrome [RCV002257816] | Chr19:50402529 [GRCh38] Chr19:50905786 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1360C>T (p.Arg454Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000545910]|Hereditary cancer-predisposing syndrome [RCV002384179]|not provided [RCV000759930] | Chr19:50406299 [GRCh38] Chr19:50909556 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2641C>G (p.Leu881Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546013]|Hereditary cancer-predisposing syndrome [RCV003302860]|not provided [RCV002469194] | Chr19:50415514 [GRCh38] Chr19:50918771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1959G>C (p.Lys653Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547058]|Hereditary cancer-predisposing syndrome [RCV003159855]|not provided [RCV003231527] | Chr19:50409188 [GRCh38] Chr19:50912445 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.426C>G (p.His142Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547260]|Hereditary cancer-predisposing syndrome [RCV003159860]|not provided [RCV003148780] | Chr19:50401887 [GRCh38] Chr19:50905144 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.887T>G (p.Val296Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547410]|Hereditary cancer-predisposing syndrome [RCV002377117] | Chr19:50402658 [GRCh38] Chr19:50905915 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1366C>T (p.Gln456Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858334]|Hereditary cancer-predisposing syndrome [RCV000562598] | Chr19:50406305 [GRCh38] Chr19:50909562 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2960dup (p.Asp987fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001346587]|Hereditary cancer-predisposing syndrome [RCV000563376] | Chr19:50416615..50416616 [GRCh38] Chr19:50919872..50919873 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.99A>G (p.Gln33=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560687]|Hereditary cancer-predisposing syndrome [RCV000571067] | Chr19:50398950 [GRCh38] Chr19:50902207 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1361G>A (p.Arg454His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560874]|Hereditary cancer-predisposing syndrome [RCV000569948] | Chr19:50406300 [GRCh38] Chr19:50909557 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1107G>C (p.Gln369His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858335]|Hereditary cancer-predisposing syndrome [RCV000563010]|not provided [RCV000759211] | Chr19:50403189 [GRCh38] Chr19:50906446 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1230C>T (p.Ala410=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000929615]|Hereditary cancer-predisposing syndrome [RCV000567192]|not provided [RCV001722531] | Chr19:50403585 [GRCh38] Chr19:50906842 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2563C>A (p.Arg855=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001858333]|Hereditary cancer-predisposing syndrome [RCV000563617] | Chr19:50414989 [GRCh38] Chr19:50918246 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2589C>T (p.His863=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546689]|Hereditary cancer-predisposing syndrome [RCV002456169] | Chr19:50415462 [GRCh38] Chr19:50918719 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553687] | Chr19:50406179 [GRCh38] Chr19:50909436 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+6G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548398] | Chr19:50407421 [GRCh38] Chr19:50910678 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3218+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001224707]|Hereditary cancer-predisposing syndrome [RCV000561566]|not specified [RCV002465721] | Chr19:50417270 [GRCh38] Chr19:50920527 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1800C>G (p.Thr600=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539481]|Hereditary cancer-predisposing syndrome [RCV000567440] | Chr19:50408809 [GRCh38] Chr19:50912066 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3302C>A (p.Pro1101His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551550] | Chr19:50417925 [GRCh38] Chr19:50921182 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.917G>A (p.Arg306His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551592]|Hereditary cancer-predisposing syndrome [RCV002258960]|POLD1-related condition [RCV003409799]|not provided [RCV002305507]|not specified [RCV001821557] | Chr19:50402688 [GRCh38] Chr19:50905945 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+3A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551799] | Chr19:50403222 [GRCh38] Chr19:50906479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3240C>T (p.Tyr1080=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000556879]|Hereditary cancer-predisposing syndrome [RCV002324004] | Chr19:50417863 [GRCh38] Chr19:50921120 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1527T>A (p.Ala509=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645805]|Hereditary cancer-predisposing syndrome [RCV000562174] | Chr19:50407015 [GRCh38] Chr19:50910272 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2785G>T (p.Ala929Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557527]|not provided [RCV001576823] | Chr19:50415791 [GRCh38] Chr19:50919048 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.895C>T (p.Pro299Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000558532] | Chr19:50402666 [GRCh38] Chr19:50905923 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.66C>T (p.Leu22=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001415711]|Hereditary cancer-predisposing syndrome [RCV002367888] | Chr19:50398917 [GRCh38] Chr19:50902174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1610G>C (p.Arg537Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700241]|Hereditary cancer-predisposing syndrome [RCV000562462] | Chr19:50407098 [GRCh38] Chr19:50910355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1463A>G (p.Asp488Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000688721]|Hereditary cancer-predisposing syndrome [RCV000568114]|not provided [RCV003478263] | Chr19:50406486 [GRCh38] Chr19:50909743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1394G>A (p.Arg465Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001853790]|Hereditary cancer-predisposing syndrome [RCV000568522] | Chr19:50406417 [GRCh38] Chr19:50909674 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2232C>G (p.Gly744=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002526886]|Hereditary cancer-predisposing syndrome [RCV000563329] | Chr19:50413503 [GRCh38] Chr19:50916760 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.940A>G (p.Ser314Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550403]|Hereditary cancer-predisposing syndrome [RCV000572421]|not provided [RCV001770458] | Chr19:50402711 [GRCh38] Chr19:50905968 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2689_2696del (p.Lys897fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000526895]|Hereditary cancer-predisposing syndrome [RCV000571570] | Chr19:50415559..50415566 [GRCh38] Chr19:50918816..50918823 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-1G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566996]|not provided [RCV000759224] | Chr19:50398851 [GRCh38] Chr19:50902108 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2712C>A (p.Ala904=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001469658]|Hereditary cancer-predisposing syndrome [RCV000567079]|not specified [RCV000600220] | Chr19:50415585 [GRCh38] Chr19:50918842 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1268G>A (p.Arg423His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000552624]|Hereditary cancer-predisposing syndrome [RCV000563416]|not provided [RCV002293453] | Chr19:50406207 [GRCh38] Chr19:50909464 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1959G>A (p.Lys653=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001408804]|Hereditary cancer-predisposing syndrome [RCV000565034] | Chr19:50409188 [GRCh38] Chr19:50912445 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554030]|Hereditary cancer-predisposing syndrome [RCV000573205]|not provided [RCV000759936]|not specified [RCV000614228] | Chr19:50407061 [GRCh38] Chr19:50910318 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.238C>G (p.Leu80Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000542680] | Chr19:50399406 [GRCh38] Chr19:50902663 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893-4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543434] | Chr19:50409118 [GRCh38] Chr19:50912375 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2754G>A (p.Leu918=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544767]|Hereditary cancer-predisposing syndrome [RCV002438434] | Chr19:50415760 [GRCh38] Chr19:50919017 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.566C>T (p.Ala189Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544964]|Hereditary cancer-predisposing syndrome [RCV002350314]|not provided [RCV001770455] | Chr19:50402101 [GRCh38] Chr19:50905358 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1645C>T (p.Arg549Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000545454]|Hereditary cancer-predisposing syndrome [RCV003302856] | Chr19:50407133 [GRCh38] Chr19:50910390 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50398846)_(50399490_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000542668] | Chr19:50398846..50399490 [GRCh38] Chr19:50902103..50902747 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3197A>G (p.His1066Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000542366]|Hereditary cancer-predisposing syndrome [RCV002324003] | Chr19:50417248 [GRCh38] Chr19:50920505 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1393C>T (p.Arg465Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547451] | Chr19:50406416 [GRCh38] Chr19:50909673 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3026G>A (p.Arg1009His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000547747]|not provided [RCV000985932] | Chr19:50416682 [GRCh38] Chr19:50919939 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.819C>T (p.Tyr273=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544102]|Hereditary cancer-predisposing syndrome [RCV000575543] | Chr19:50402514 [GRCh38] Chr19:50905771 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000033142]|not provided [RCV001358647] | Chr19:50406456 [GRCh38] Chr19:50909713 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000033143] | Chr19:50403062 [GRCh38] Chr19:50906319 [GRCh37] Chr19:19q13.33 |
risk factor|uncertain significance |
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 | copy number gain | See cases [RCV000050883] | Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 | copy number gain | See cases [RCV000052925] | Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 | copy number gain | See cases [RCV000052914] | Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 | copy number gain | See cases [RCV000052915] | Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001052191]|Hereditary cancer-predisposing syndrome [RCV000567311]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV000054542]|POLD1-related condition [RCV003905016]|not provided [RCV000484962] | Chr19:50408818..50408820 [GRCh38] Chr19:50912075..50912077 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_002691.4(POLD1):c.1186dup (p.Tyr396fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001325245]|Hereditary cancer-predisposing syndrome [RCV002331285]|not provided [RCV000657285] | Chr19:50403539..50403540 [GRCh38] Chr19:50906796..50906797 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2795dup (p.Val933fs) | duplication | not provided [RCV000657417] | Chr19:50415798..50415799 [GRCh38] Chr19:50919055..50919056 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.363C>T (p.Ser121=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543014]|Hereditary cancer-predisposing syndrome [RCV002456172] | Chr19:50401824 [GRCh38] Chr19:50905081 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1193T>C (p.Ile398Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001348847]|Hereditary cancer-predisposing syndrome [RCV003375247] | Chr19:50403548 [GRCh38] Chr19:50906805 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1672C>G (p.Gln558Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302485] | Chr19:50407160 [GRCh38] Chr19:50910417 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000408961]|not specified [RCV000418066] | Chr19:50408766 [GRCh38] Chr19:50912023 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2940G>T (p.Glu980Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001348380] | Chr19:50416515 [GRCh38] Chr19:50919772 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409016] | Chr19:50413537 [GRCh38] Chr19:50916794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.837G>T (p.Glu279Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001312299] | Chr19:50402532 [GRCh38] Chr19:50905789 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2443T>G (p.Ser815Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001303053] | Chr19:50414869 [GRCh38] Chr19:50918126 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000133512]|Hereditary cancer-predisposing syndrome [RCV000568467] | Chr19:50406444 [GRCh38] Chr19:50909701 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|risk factor |
NM_002691.4(POLD1):c.292C>T (p.Gln98Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001303587] | Chr19:50399460 [GRCh38] Chr19:50902717 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1438C>T (p.His480Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001312802] | Chr19:50406461 [GRCh38] Chr19:50909718 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1301C>T (p.Ser434Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001303259]|Hereditary cancer-predisposing syndrome [RCV002384367] | Chr19:50406240 [GRCh38] Chr19:50909497 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 | copy number gain | See cases [RCV000135843] | Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
NM_002691.4(POLD1):c.2007-4G>A | single nucleotide variant | Carcinoma of colon [RCV001357515]|Colorectal cancer, susceptibility to, 10 [RCV000206033]|Hereditary cancer-predisposing syndrome [RCV000570573]|not provided [RCV000589356]|not specified [RCV000202855] | Chr19:50409515 [GRCh38] Chr19:50912772 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001025778.1(VRK3):c.-376583_-65+1628dup | duplication | Normal pregnancy [RCV000161882] | Chr19:50023639..50401785 [GRCh38] Chr19:50526896..50905042 [GRCh37] Chr19:19q13.33 |
not provided |
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) | single nucleotide variant | Colorectal cancer [RCV000211516]|Colorectal cancer, susceptibility to, 10 [RCV000411457]|Hereditary cancer-predisposing syndrome [RCV000573664]|not provided [RCV000985925]|not specified [RCV000780642] | Chr19:50398868 [GRCh38] Chr19:50902125 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.242G>A (p.Arg81Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000545205]|Hereditary cancer-predisposing syndrome [RCV002456166]|not provided [RCV001536206] | Chr19:50399410 [GRCh38] Chr19:50902667 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2789C>T (p.Ala930Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546334]|Hereditary cancer-predisposing syndrome [RCV002438438] | Chr19:50415795 [GRCh38] Chr19:50919052 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3202del (p.Asp1068fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001871655]|not provided [RCV001284331] | Chr19:50417252 [GRCh38] Chr19:50920509 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000204228]|Colorectal cancer, susceptibility to, 10 [RCV002500664]|Hereditary cancer-predisposing syndrome [RCV000576004]|not provided [RCV000588327]|not specified [RCV000420692] | Chr19:50398939 [GRCh38] Chr19:50902196 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) | single nucleotide variant | Carcinoma of colon [RCV001356421]|Colorectal cancer, susceptibility to, 10 [RCV000204415]|Colorectal cancer, susceptibility to, 10 [RCV002503812]|Hereditary cancer-predisposing syndrome [RCV000562311]|not provided [RCV000586316]|not specified [RCV000419079] | Chr19:50414972 [GRCh38] Chr19:50918229 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.674G>A (p.Arg225His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000204470]|Familial colorectal cancer [RCV000709583]|Hereditary cancer-predisposing syndrome [RCV002372204]|not provided [RCV003221860] | Chr19:50402289 [GRCh38] Chr19:50905546 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) | single nucleotide variant | Carcinoma of colon [RCV001356862]|Colorectal cancer, susceptibility to, 10 [RCV000204540]|Colorectal cancer, susceptibility to, 10 [RCV000764216]|Familial colorectal cancer [RCV000709584]|Hereditary cancer-predisposing syndrome [RCV000564226]|POLD1-related condition [RCV003927883]|not provided [RCV000657083]|not specified [RCV002267945] | Chr19:50402732 [GRCh38] Chr19:50905989 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1138-8A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000204543]|Hereditary cancer-predisposing syndrome [RCV000664280]|not provided [RCV000679473]|not specified [RCV000437496] | Chr19:50403485 [GRCh38] Chr19:50906742 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001080514]|Hereditary cancer-predisposing syndrome [RCV000567704]|not provided [RCV000759928]|not specified [RCV000432327] | Chr19:50406214 [GRCh38] Chr19:50909471 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.463+8_463+9delinsTT | indel | Carcinoma of colon [RCV001358566]|Colorectal cancer, susceptibility to, 10 [RCV000204810]|Hereditary cancer-predisposing syndrome [RCV000664286]|not provided [RCV000590576]|not specified [RCV000481167] | Chr19:50401932..50401933 [GRCh38] Chr19:50905189..50905190 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.56G>A (p.Arg19His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000204841]|Colorectal cancer, susceptibility to, 10 [RCV002500662]|Endometrial carcinoma [RCV001357701]|Hereditary cancer-predisposing syndrome [RCV000210816]|not provided [RCV000589239]|not specified [RCV000419509] | Chr19:50398907 [GRCh38] Chr19:50902164 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) | single nucleotide variant | Colon cancer [RCV000417237]|Colorectal cancer, susceptibility to, 10 [RCV001081357]|Colorectal cancer, susceptibility to, 10 [RCV002503818]|Familial ovarian cancer [RCV001354723]|Hereditary cancer-predisposing syndrome [RCV000573522]|POLD1-related condition [RCV003891786]|not provided [RCV000588877]|not specified [RCV000236076] | Chr19:50401894 [GRCh38] Chr19:50905151 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.1686+10C>T | single nucleotide variant | Carcinoma of colon [RCV001357668]|Colorectal cancer, susceptibility to, 10 [RCV000204952]|not specified [RCV000418399] | Chr19:50407184 [GRCh38] Chr19:50910441 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084127]|Colorectal cancer, susceptibility to, 10 [RCV002485354]|Hereditary cancer-predisposing syndrome [RCV000568363]|POLD1-related condition [RCV003917850]|not provided [RCV000759964]|not specified [RCV000213915] | Chr19:50402473 [GRCh38] Chr19:50905730 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) | single nucleotide variant | Carcinoma of colon [RCV001355699]|Colorectal cancer, susceptibility to, 10 [RCV001084358]|Hereditary cancer-predisposing syndrome [RCV000568794]|not provided [RCV000759216]|not specified [RCV000437612] | Chr19:50407401 [GRCh38] Chr19:50910658 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.496C>T (p.Arg166Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000205369]|Colorectal cancer, susceptibility to, 10 [RCV000764212]|not provided [RCV000486470] | Chr19:50402031 [GRCh38] Chr19:50905288 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000205393]|Hereditary cancer-predisposing syndrome [RCV000566611]|Polymerase proofreading-related adenomatous polyposis [RCV001357835]|not provided [RCV000587636]|not specified [RCV000423569] | Chr19:50409206 [GRCh38] Chr19:50912463 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2301G>A (p.Ser767=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000205437]|Hereditary cancer-predisposing syndrome [RCV000572796]|not provided [RCV001697176] | Chr19:50413792 [GRCh38] Chr19:50917049 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.378C>T (p.Arg126=) | single nucleotide variant | Carcinoma of colon [RCV001356191]|Colorectal cancer, susceptibility to, 10 [RCV001079436]|Hereditary cancer-predisposing syndrome [RCV000570853]|not provided [RCV000759962]|not specified [RCV000427145] | Chr19:50401839 [GRCh38] Chr19:50905096 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.376C>T (p.Arg126Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000205808]|Colorectal cancer, susceptibility to, 10 [RCV002478745]|Hereditary cancer-predisposing syndrome [RCV002363035]|not provided [RCV001552241] | Chr19:50401837 [GRCh38] Chr19:50905094 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+9_3218+10inv | inversion | Carcinoma of colon [RCV001358426]|Colorectal cancer, susceptibility to, 10 [RCV000205810]|not provided [RCV001722134]|not specified [RCV000483226] | Chr19:50417278..50417279 [GRCh38] Chr19:50920535..50920536 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990251]|Hereditary cancer-predisposing syndrome [RCV002257513]|POLD1-related condition [RCV003891787]|not provided [RCV000679526]|not specified [RCV000431487] | Chr19:50402468 [GRCh38] Chr19:50905725 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.324G>T (p.Ala108=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083000]|Colorectal cancer, susceptibility to, 10 [RCV002503813]|Hereditary cancer-predisposing syndrome [RCV000575017]|not provided [RCV000590376]|not specified [RCV000427374] | Chr19:50401785 [GRCh38] Chr19:50905042 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.384C>T (p.Phe128=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000206129]|Hereditary cancer-predisposing syndrome [RCV000575238]|POLD1-related condition [RCV003927878]|not provided [RCV001711359] | Chr19:50401845 [GRCh38] Chr19:50905102 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990257]|Hereditary cancer-predisposing syndrome [RCV000575776]|not provided [RCV000759939]|not specified [RCV000436739] | Chr19:50407108 [GRCh38] Chr19:50910365 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990267]|Hereditary cancer-predisposing syndrome [RCV000564405]|not provided [RCV000759238]|not specified [RCV000435542] | Chr19:50416623 [GRCh38] Chr19:50919880 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2100A>G (p.Val700=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084621]|Hereditary cancer-predisposing syndrome [RCV000563363]|not provided [RCV000679488]|not specified [RCV000426556] | Chr19:50409612 [GRCh38] Chr19:50912869 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) | single nucleotide variant | Carcinoma of colon [RCV001356860]|Colorectal cancer, susceptibility to, 10 [RCV001080725]|Hereditary cancer-predisposing syndrome [RCV000561011]|POLD1-related condition [RCV003927881]|not provided [RCV000657084]|not specified [RCV001778795] | Chr19:50401832 [GRCh38] Chr19:50905089 [GRCh37] Chr19:19q13.33 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) | single nucleotide variant | Carcinoma of colon [RCV001355911]|Colorectal cancer, susceptibility to, 10 [RCV000206524]|Hereditary cancer-predisposing syndrome [RCV000567322]|not provided [RCV003736640]|not specified [RCV000442416] | Chr19:50416437 [GRCh38] Chr19:50919694 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.3159C>T (p.Arg1053=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001500451] | Chr19:50417210 [GRCh38] Chr19:50920467 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000203677]|Hereditary cancer-predisposing syndrome [RCV000564370]|not provided [RCV000236689]|not specified [RCV001818504] | Chr19:50409529 [GRCh38] Chr19:50912786 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.849G>T (p.Gln283His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000203707]|Hereditary cancer-predisposing syndrome [RCV000561488]|Polymerase proofreading-related adenomatous polyposis [RCV001358262]|not provided [RCV000586017]|not specified [RCV000430306] | Chr19:50402620 [GRCh38] Chr19:50905877 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990260]|Hereditary cancer-predisposing syndrome [RCV000664281]|POLD1-related condition [RCV003891778]|not provided [RCV000657095]|not specified [RCV002267941] | Chr19:50408804 [GRCh38] Chr19:50912061 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000206687]|Hereditary cancer-predisposing syndrome [RCV000210771]|Malignant tumor of breast [RCV001269368]|POLD1-related condition [RCV003891782]|not provided [RCV000679493]|not specified [RCV000217194] | Chr19:50413766 [GRCh38] Chr19:50917023 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.714G>A (p.Thr238=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990250]|Hereditary cancer-predisposing syndrome [RCV000572681]|not provided [RCV000759250]|not specified [RCV000419426] | Chr19:50402329 [GRCh38] Chr19:50905586 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1608G>A (p.Ala536=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001089172]|Hereditary cancer-predisposing syndrome [RCV000572463]|not provided [RCV000759938]|not specified [RCV003321544] | Chr19:50407096 [GRCh38] Chr19:50910353 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083156]|Hereditary cancer-predisposing syndrome [RCV000560967]|not provided [RCV000589705]|not specified [RCV000419687] | Chr19:50415501 [GRCh38] Chr19:50918758 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3293G>A (p.Arg1098His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000548324]|Hereditary cancer-predisposing syndrome [RCV002456171]|not provided [RCV000985936] | Chr19:50417916 [GRCh38] Chr19:50921173 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2904C>A (p.Arg968=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550133] | Chr19:50416479 [GRCh38] Chr19:50919736 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.294G>T (p.Gln98His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551969] | Chr19:50399462 [GRCh38] Chr19:50902719 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1147A>G (p.Thr383Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000549627] | Chr19:50403502 [GRCh38] Chr19:50906759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000556614]|not specified [RCV000613637] | Chr19:50415803 [GRCh38] Chr19:50919060 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2624G>T (p.Arg875Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557216]|Hereditary cancer-predisposing syndrome [RCV003302859] | Chr19:50415497 [GRCh38] Chr19:50918754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1965G>A (p.Leu655=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557318]|Hereditary cancer-predisposing syndrome [RCV002420474] | Chr19:50409194 [GRCh38] Chr19:50912451 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1422C>G (p.Leu474=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557894]|POLD1-related condition [RCV003900193] | Chr19:50406445 [GRCh38] Chr19:50909702 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645905]|Hereditary cancer-predisposing syndrome [RCV000563969] | Chr19:50407322 [GRCh38] Chr19:50910579 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553539]|Colorectal cancer, susceptibility to, 10 [RCV000764224]|Hereditary cancer-predisposing syndrome [RCV003159854]|not provided [RCV001284042] | Chr19:50408876 [GRCh38] Chr19:50912133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2447C>T (p.Ser816Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000559123] | Chr19:50414873 [GRCh38] Chr19:50918130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3262G>A (p.Asp1088Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560067]|Hereditary cancer-predisposing syndrome [RCV002324005]|not provided [RCV001731768] | Chr19:50417885 [GRCh38] Chr19:50921142 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.561G>A (p.Val187=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000920269]|Hereditary cancer-predisposing syndrome [RCV000563608] | Chr19:50402096 [GRCh38] Chr19:50905353 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2559C>T (p.Ile853=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554296]|Hereditary cancer-predisposing syndrome [RCV002431652] | Chr19:50414985 [GRCh38] Chr19:50918242 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1716G>T (p.Val572=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001500066]|Hereditary cancer-predisposing syndrome [RCV000758170] | Chr19:50407356 [GRCh38] Chr19:50910613 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1379T>C (p.Leu460Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564045] | Chr19:50406318 [GRCh38] Chr19:50909575 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533276]|Hereditary cancer-predisposing syndrome [RCV000565353]|not provided [RCV002274064] | Chr19:50403200 [GRCh38] Chr19:50906457 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1505A>G (p.Asp502Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525373]|Hereditary cancer-predisposing syndrome [RCV000567025]|not provided [RCV003105953] | Chr19:50406993 [GRCh38] Chr19:50910250 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2511C>T (p.Cys837=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000526611]|Hereditary cancer-predisposing syndrome [RCV000565363]|not provided [RCV001696949] | Chr19:50414937 [GRCh38] Chr19:50918194 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2889C>A (p.Ala963=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001491657]|Hereditary cancer-predisposing syndrome [RCV000564705] | Chr19:50416464 [GRCh38] Chr19:50919721 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2744C>T (p.Ala915Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555949]|not provided [RCV002305506] | Chr19:50415750 [GRCh38] Chr19:50919007 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+9G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000556256] | Chr19:50416537 [GRCh38] Chr19:50919794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) | single nucleotide variant | Carcinoma of colon [RCV000210898]|Colorectal cancer, susceptibility to, 10 [RCV000228225]|Colorectal cancer, susceptibility to, 10 [RCV000765469]|Familial colorectal cancer [RCV000709579]|Hereditary cancer-predisposing syndrome [RCV000562731]|POLD1-related condition [RCV003891790]|not provided [RCV000657103]|not specified [RCV000235439] | Chr19:50399376 [GRCh38] Chr19:50902633 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.475G>A (p.Glu159Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000549113]|Hereditary cancer-predisposing syndrome [RCV003159861]|not provided [RCV001786400] | Chr19:50402010 [GRCh38] Chr19:50905267 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1289A>G (p.Asn430Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807683]|Hereditary cancer-predisposing syndrome [RCV000561845] | Chr19:50406228 [GRCh38] Chr19:50909485 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.639C>A (p.Thr213=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001061332]|Hereditary cancer-predisposing syndrome [RCV000564356] | Chr19:50402254 [GRCh38] Chr19:50905511 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1776-68C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209167] | Chr19:50408717 [GRCh38] Chr19:50911974 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-204C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209497] | Chr19:50406779 [GRCh38] Chr19:50910036 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-70C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209441] | Chr19:50417772 [GRCh38] Chr19:50921029 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3050C>T (p.Thr1017Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550906] | Chr19:50416706 [GRCh38] Chr19:50919963 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-250G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209776] | Chr19:50417592 [GRCh38] Chr19:50920849 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2518G>A (p.Val840Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000551806]|Hereditary cancer-predisposing syndrome [RCV002431651]|not provided [RCV000759947] | Chr19:50414944 [GRCh38] Chr19:50918201 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990246]|Hereditary cancer-predisposing syndrome [RCV000561773]|not specified [RCV000613037] | Chr19:50401773 [GRCh38] Chr19:50905030 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.379G>T (p.Ala127Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553112] | Chr19:50401840 [GRCh38] Chr19:50905097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758G>A (p.Arg253Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555934]|not provided [RCV001770457] | Chr19:50402373 [GRCh38] Chr19:50905630 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1428C>T (p.Ala476=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229370]|Hereditary cancer-predisposing syndrome [RCV002392695]|not specified [RCV000425447] | Chr19:50406451 [GRCh38] Chr19:50909708 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.645G>A (p.Ala215=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229419]|Hereditary cancer-predisposing syndrome [RCV000574123]|not provided [RCV001531909]|not specified [RCV001824699] | Chr19:50402260 [GRCh38] Chr19:50905517 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3277G>A (p.Glu1093Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229656]|Hereditary cancer-predisposing syndrome [RCV002321870]|not provided [RCV001762527] | Chr19:50417900 [GRCh38] Chr19:50921157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.601T>C (p.Tyr201His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229817]|Hereditary cancer-predisposing syndrome [RCV003165625]|not provided [RCV000985940] | Chr19:50402216 [GRCh38] Chr19:50905473 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2994G>C (p.Lys998Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227567]|Hereditary cancer-predisposing syndrome [RCV002436026] | Chr19:50416650 [GRCh38] Chr19:50919907 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227620]|Hereditary cancer-predisposing syndrome [RCV000664282]|not provided [RCV000657108]|not specified [RCV000481293] | Chr19:50413817 [GRCh38] Chr19:50917074 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.651G>A (p.Pro217=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001080245]|Hereditary cancer-predisposing syndrome [RCV000567467]|POLD1-related condition [RCV003937897]|not provided [RCV000759247]|not specified [RCV002465587] | Chr19:50402266 [GRCh38] Chr19:50905523 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.156G>A (p.Glu52=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001080608]|Hereditary cancer-predisposing syndrome [RCV000567127]|not provided [RCV000679479] | Chr19:50399007 [GRCh38] Chr19:50902264 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3321G>C (p.Trp1107Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229836]|not provided [RCV000235424] | Chr19:50417944 [GRCh38] Chr19:50921201 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086163]|Hereditary cancer-predisposing syndrome [RCV000567813]|POLD1-related condition [RCV003955329]|not provided [RCV000229903]|not specified [RCV000420407] | Chr19:50406991 [GRCh38] Chr19:50910248 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2865G>A (p.Gln955=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229940]|Hereditary cancer-predisposing syndrome [RCV000564532]|not specified [RCV001818600] | Chr19:50416440 [GRCh38] Chr19:50919697 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2560G>A (p.Asp854Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229984]|Inborn genetic diseases [RCV002518332]|POLD1-related condition [RCV003417815]|not provided [RCV000480703] | Chr19:50414986 [GRCh38] Chr19:50918243 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2933G>A (p.Arg978His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230108]|Hereditary cancer-predisposing syndrome [RCV002436022]|not provided [RCV001537270] | Chr19:50416508 [GRCh38] Chr19:50919765 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2248A>G (p.Lys750Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230131] | Chr19:50413519 [GRCh38] Chr19:50916776 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084210]|not provided [RCV000759222]|not specified [RCV000436158] | Chr19:50409161 [GRCh38] Chr19:50912418 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3072C>T (p.Ala1024=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228179]|Hereditary cancer-predisposing syndrome [RCV000564952]|POLD1-related condition [RCV003929958]|not provided [RCV001722234]|not specified [RCV000601019] | Chr19:50417049 [GRCh38] Chr19:50920306 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1362C>T (p.Arg454=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228455]|Hereditary cancer-predisposing syndrome [RCV000566814]|Polymerase proofreading-related adenomatous polyposis [RCV001354211]|not provided [RCV001812641]|not specified [RCV000432619] | Chr19:50406301 [GRCh38] Chr19:50909558 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2717+9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001469205] | Chr19:50415599 [GRCh38] Chr19:50918856 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230308]|Colorectal cancer, susceptibility to, 10 [RCV000764215]|not provided [RCV000679532] | Chr19:50402637 [GRCh38] Chr19:50905894 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2397C>A (p.Phe799Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230550]|Hereditary cancer-predisposing syndrome [RCV002450687]|not provided [RCV001770196] | Chr19:50414823 [GRCh38] Chr19:50918080 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.653G>A (p.Arg218His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079679]|Endometrial carcinoma [RCV001355957]|Hereditary cancer-predisposing syndrome [RCV000568154]|POLD1-related condition [RCV003977658]|not provided [RCV000657073]|not specified [RCV000236875] | Chr19:50402268 [GRCh38] Chr19:50905525 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990248]|Hereditary cancer [RCV003492004]|Hereditary cancer-predisposing syndrome [RCV000575277]|POLD1-related condition [RCV003891811]|not provided [RCV000657109]|not specified [RCV001818602] | Chr19:50401916 [GRCh38] Chr19:50905173 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1986C>A (p.Asn662Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230750] | Chr19:50409215 [GRCh38] Chr19:50912472 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2731G>A (p.Asp911Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228607] | Chr19:50415737 [GRCh38] Chr19:50918994 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228643]|Hereditary cancer-predisposing syndrome [RCV002399822]|not provided [RCV000985924] | Chr19:50407324 [GRCh38] Chr19:50910581 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2044C>T (p.Arg682Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228818]|not provided [RCV001578146] | Chr19:50409556 [GRCh38] Chr19:50912813 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
NM_002691.4(POLD1):c.201C>T (p.Asp67=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230849]|Hereditary cancer-predisposing syndrome [RCV000566850]|not specified [RCV000437426] | Chr19:50399052 [GRCh38] Chr19:50902309 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-3C>T | single nucleotide variant | Carcinoma of colon [RCV001356777]|Colorectal cancer, susceptibility to, 10 [RCV000230988]|Hereditary cancer-predisposing syndrome [RCV000576089]|not provided [RCV001722232]|not specified [RCV003493537] | Chr19:50403490 [GRCh38] Chr19:50906747 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2564G>T (p.Arg855Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231143]|not provided [RCV001555772] | Chr19:50414990 [GRCh38] Chr19:50918247 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1194C>G (p.Ile398Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231225]|Hereditary cancer-predisposing syndrome [RCV000570257]|not provided [RCV003225050] | Chr19:50403549 [GRCh38] Chr19:50906806 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231301]|POLD1-related condition [RCV003390992]|not provided [RCV002264923]|not specified [RCV001818603] | Chr19:50402479 [GRCh38] Chr19:50905736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2515C>A (p.Leu839Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229171]|Hereditary cancer-predisposing syndrome [RCV002429109] | Chr19:50414941 [GRCh38] Chr19:50918198 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229243]|not provided [RCV000859009]|not specified [RCV002465583] | Chr19:50413734 [GRCh38] Chr19:50916991 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1775+2T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229313] | Chr19:50407417 [GRCh38] Chr19:50910674 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229474]|not provided [RCV000759943] | Chr19:50413420 [GRCh38] Chr19:50916677 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) | single nucleotide variant | Carcinoma of colon [RCV001354870]|Colorectal cancer, susceptibility to, 10 [RCV001079260]|Hereditary cancer-predisposing syndrome [RCV000569786]|not provided [RCV003736656]|not specified [RCV000442456] | Chr19:50407353 [GRCh38] Chr19:50910610 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1830C>T (p.Ile610=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001483249]|Hereditary cancer-predisposing syndrome [RCV003372659] | Chr19:50408839 [GRCh38] Chr19:50912096 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2958G>C (p.Gly986=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001257063]|Hereditary cancer-predisposing syndrome [RCV000561686]|POLD1-related condition [RCV003955332]|not provided [RCV000759237]|not specified [RCV000418113] | Chr19:50416614 [GRCh38] Chr19:50919871 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1028G>C (p.Arg343Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229812]|Hereditary cancer-predisposing syndrome [RCV000571398]|not provided [RCV001566503] | Chr19:50403110 [GRCh38] Chr19:50906367 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-8C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001490885] | Chr19:50406399 [GRCh38] Chr19:50909656 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) | single nucleotide variant | Carcinoma of colon [RCV001356425]|Colorectal cancer, susceptibility to, 10 [RCV001079593]|Hereditary cancer-predisposing syndrome [RCV000575474]|not provided [RCV000679489]|not specified [RCV000434365] | Chr19:50409615 [GRCh38] Chr19:50912872 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3231C>T (p.Pro1077=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087792]|Hereditary cancer-predisposing syndrome [RCV000573600]|not provided [RCV000479003]|not specified [RCV002267989] | Chr19:50417854 [GRCh38] Chr19:50921111 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.531C>T (p.Arg177=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082325]|Hereditary cancer-predisposing syndrome [RCV000561484]|not provided [RCV000231952] | Chr19:50402066 [GRCh38] Chr19:50905323 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231988]|Hereditary cancer-predisposing syndrome [RCV000576035]|not provided [RCV000479381]|not specified [RCV002465586] | Chr19:50402118 [GRCh38] Chr19:50905375 [GRCh37] Chr19:19q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.3219-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230071]|Hereditary cancer-predisposing syndrome [RCV000573334]|POLD1-related condition [RCV003907867]|not provided [RCV001722235] | Chr19:50417837 [GRCh38] Chr19:50921094 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1073G>A (p.Arg358Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230326]|Hereditary cancer-predisposing syndrome [RCV000570850]|not provided [RCV002508204] | Chr19:50403155 [GRCh38] Chr19:50906412 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3000C>T (p.Gly1000=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230334]|Hereditary cancer-predisposing syndrome [RCV000564456]|not provided [RCV001697229] | Chr19:50416656 [GRCh38] Chr19:50919913 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1794C>T (p.Ile598=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084178]|Hereditary cancer-predisposing syndrome [RCV000570034]|not provided [RCV000679484]|not specified [RCV000423511] | Chr19:50408803 [GRCh38] Chr19:50912060 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086837]|Hereditary cancer-predisposing syndrome [RCV000562541]|not provided [RCV000759955]|not specified [RCV002465584] | Chr19:50417274 [GRCh38] Chr19:50920531 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2163G>A (p.Thr721=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001085090]|Hereditary cancer-predisposing syndrome [RCV000565865]|not provided [RCV000679492]|not specified [RCV000422492] | Chr19:50413434 [GRCh38] Chr19:50916691 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230429]|Colorectal cancer, susceptibility to, 10 [RCV000764211]|Hereditary cancer [RCV003492003]|Hereditary cancer-predisposing syndrome [RCV003165624]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV003483587]|not provided [RCV000487399] | Chr19:50401814 [GRCh38] Chr19:50905071 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance|not provided |
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230451]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001292749]|not provided [RCV001355034]|not specified [RCV003330596] | Chr19:50413818 [GRCh38] Chr19:50917075 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1597G>A (p.Val533Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000230708]|Hereditary cancer-predisposing syndrome [RCV001012356] | Chr19:50407085 [GRCh38] Chr19:50910342 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2700C>T (p.His900=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082683]|Hereditary cancer-predisposing syndrome [RCV000571660]|POLD1-related condition [RCV003929957]|not provided [RCV000759227]|not specified [RCV000424369] | Chr19:50415573 [GRCh38] Chr19:50918830 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2979G>A (p.Thr993=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081919]|Hereditary cancer-predisposing syndrome [RCV000572091]|not provided [RCV000759240]|not specified [RCV001818601] | Chr19:50416635 [GRCh38] Chr19:50919892 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1383+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000225839]|Hereditary cancer-predisposing syndrome [RCV002255329]|Polymerase proofreading-related adenomatous polyposis [RCV001356623]|not provided [RCV003477815]|not specified [RCV000421732] | Chr19:50406330 [GRCh38] Chr19:50909587 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079499]|Hereditary cancer-predisposing syndrome [RCV002257545]|POLD1-related condition [RCV003967635]|not provided [RCV000732271]|not specified [RCV001818598] | Chr19:50398864 [GRCh38] Chr19:50902121 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2560G>T (p.Asp854Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232699]|not provided [RCV000679497] | Chr19:50414986 [GRCh38] Chr19:50918243 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232792]|not provided [RCV000482798]|not specified [RCV001251336] | Chr19:50413808 [GRCh38] Chr19:50917065 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990265]|Hereditary cancer-predisposing syndrome [RCV000566074]|POLD1-related condition [RCV003929956]|not provided [RCV000759951]|not specified [RCV002267986] | Chr19:50415450 [GRCh38] Chr19:50918707 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2941G>T (p.Ala981Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232904] | Chr19:50416516 [GRCh38] Chr19:50919773 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2293G>A (p.Val765Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231051]|not provided [RCV000485228]|not specified [RCV002267984] | Chr19:50413784 [GRCh38] Chr19:50917041 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1519C>T (p.Arg507Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231164] | Chr19:50407007 [GRCh38] Chr19:50910264 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.520C>T (p.Arg174Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231174]|not provided [RCV001568780] | Chr19:50402055 [GRCh38] Chr19:50905312 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231349] | Chr19:50415599 [GRCh38] Chr19:50918856 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2549G>A (p.Arg850His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226005]|not provided [RCV000759950]|not specified [RCV002267985] | Chr19:50414975 [GRCh38] Chr19:50918232 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2861C>T (p.Thr954Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226033]|not provided [RCV000657139] | Chr19:50416436 [GRCh38] Chr19:50919693 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2910C>T (p.Phe970=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084779]|Hereditary cancer-predisposing syndrome [RCV000575479]|POLD1-related condition [RCV003937895]|not provided [RCV000759233] | Chr19:50416485 [GRCh38] Chr19:50919742 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087830]|Hereditary cancer-predisposing syndrome [RCV001019297]|not provided [RCV000828251]|not specified [RCV002267988] | Chr19:50417838 [GRCh38] Chr19:50921095 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) | single nucleotide variant | Bile duct cancer [RCV001355082]|Colorectal cancer, susceptibility to, 10 [RCV001083805]|Hereditary cancer-predisposing syndrome [RCV000573985]|POLD1-related condition [RCV003955327]|not provided [RCV000759208]|not specified [RCV001818597] | Chr19:50403099 [GRCh38] Chr19:50906356 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2173C>T (p.Arg725Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226305] | Chr19:50413444 [GRCh38] Chr19:50916701 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233004]|Hereditary cancer-predisposing syndrome [RCV002418009] | Chr19:50399392 [GRCh38] Chr19:50902649 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2285G>A (p.Arg762Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233094]|not provided [RCV000236894] | Chr19:50413776 [GRCh38] Chr19:50917033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2537C>T (p.Ala846Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233155] | Chr19:50414963 [GRCh38] Chr19:50918220 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231482]|Colorectal cancer, susceptibility to, 10 [RCV000765471]|Hereditary cancer-predisposing syndrome [RCV000566453]|POLD1-related condition [RCV003891810]|not provided [RCV000235997] | Chr19:50399413 [GRCh38] Chr19:50902670 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2802C>T (p.Ala934=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083622]|Hereditary cancer-predisposing syndrome [RCV000565454]|not provided [RCV000679505] | Chr19:50415808 [GRCh38] Chr19:50919065 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.970+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231651] | Chr19:50402750 [GRCh38] Chr19:50906007 [GRCh37] Chr19:19q13.33 |
likely pathogenic|likely benign |
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231655]|Hereditary cancer [RCV003492002]|Hereditary cancer-predisposing syndrome [RCV000564986]|POLD1-related condition [RCV003891808]|not provided [RCV000679487]|not specified [RCV000485931] | Chr19:50409564 [GRCh38] Chr19:50912821 [GRCh37] Chr19:19q13.33 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1298A>C (p.Asp433Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000231903]|Hereditary cancer-predisposing syndrome [RCV003165619] | Chr19:50406237 [GRCh38] Chr19:50909494 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226403]|Hereditary cancer-predisposing syndrome [RCV000574212]|not provided [RCV001711632]|not specified [RCV000420473] | Chr19:50413525 [GRCh38] Chr19:50916782 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.17G>C (p.Arg6Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226679]|Hereditary cancer-predisposing syndrome [RCV003165620]|not provided [RCV000759220] | Chr19:50398868 [GRCh38] Chr19:50902125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1449C>T (p.Gly483=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233350]|Hereditary cancer-predisposing syndrome [RCV000569725]|not provided [RCV001558773] | Chr19:50406472 [GRCh38] Chr19:50909729 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.733G>A (p.Glu245Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233507] | Chr19:50402348 [GRCh38] Chr19:50905605 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2964C>T (p.His988=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233630]|Hereditary cancer-predisposing syndrome [RCV002436023] | Chr19:50416620 [GRCh38] Chr19:50919877 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2983C>T (p.Leu995Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233656]|Hereditary cancer-predisposing syndrome [RCV002436025]|not provided [RCV001589183] | Chr19:50416639 [GRCh38] Chr19:50919896 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1674G>A (p.Gln558=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001491808] | Chr19:50407162 [GRCh38] Chr19:50910419 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233715]|Colorectal cancer, susceptibility to, 10 [RCV000765468]|POLD1-related condition [RCV003390991]|not provided [RCV000657137]|not specified [RCV000477990] | Chr19:50399371 [GRCh38] Chr19:50902628 [GRCh37] Chr19:19q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2718-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233720]|Hereditary cancer-predisposing syndrome [RCV000572007]|POLD1-related condition [RCV003955331]|not provided [RCV001311900]|not specified [RCV002267987] | Chr19:50415719 [GRCh38] Chr19:50918976 [GRCh37] Chr19:19q13.33 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.885G>C (p.Val295=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081861]|Hereditary cancer-predisposing syndrome [RCV000573633]|not provided [RCV000759970]|not specified [RCV000427126] | Chr19:50402656 [GRCh38] Chr19:50905913 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1666G>A (p.Val556Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232098]|not provided [RCV001546960]|not specified [RCV001193677] | Chr19:50407154 [GRCh38] Chr19:50910411 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232119]|Colorectal cancer, susceptibility to, 10 [RCV000764231]|Hereditary cancer-predisposing syndrome [RCV002436021]|POLD1-related condition [RCV003947768]|not provided [RCV000759231] | Chr19:50416436 [GRCh38] Chr19:50919693 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3095G>A (p.Arg1032Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232225]|not provided [RCV001762526] | Chr19:50417072 [GRCh38] Chr19:50920329 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2902C>G (p.Arg968Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232304] | Chr19:50416477 [GRCh38] Chr19:50919734 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1366C>G (p.Gln456Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232435]|Colorectal cancer, susceptibility to, 10 [RCV002500778]|Hereditary cancer-predisposing syndrome [RCV001011064] | Chr19:50406305 [GRCh38] Chr19:50909562 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2428G>A (p.Ala810Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232510]|not provided [RCV001589182] | Chr19:50414854 [GRCh38] Chr19:50918111 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226871]|Colorectal cancer, susceptibility to, 10 [RCV000764220]|Hereditary cancer-predisposing syndrome [RCV000575300]|not provided [RCV000480965]|not specified [RCV002267982] | Chr19:50406261 [GRCh38] Chr19:50909518 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226941]|Colorectal cancer, susceptibility to, 10 [RCV000764227]|Hereditary cancer-predisposing syndrome [RCV000562777]|not provided [RCV000484422] | Chr19:50413781 [GRCh38] Chr19:50917038 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227029]|Hereditary cancer-predisposing syndrome [RCV000572171]|not provided [RCV000679486]|not specified [RCV003493539] | Chr19:50409514 [GRCh38] Chr19:50912771 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.3156G>A (p.Ser1052=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081709]|Hereditary cancer-predisposing syndrome [RCV000568829]|not provided [RCV000827452]|not specified [RCV002229343] | Chr19:50417207 [GRCh38] Chr19:50920464 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1226G>A (p.Arg409Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233951]|Hereditary cancer-predisposing syndrome [RCV000568088]|not provided [RCV000487134] | Chr19:50403581 [GRCh38] Chr19:50906838 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234115]|Familial colorectal cancer [RCV000709582]|Hereditary cancer-predisposing syndrome [RCV000571646]|not provided [RCV000679519]|not specified [RCV003321561] | Chr19:50402056 [GRCh38] Chr19:50905313 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) | single nucleotide variant | Colorectal cancer [RCV000590937]|Colorectal cancer, susceptibility to, 10 [RCV000234172]|Familial colorectal cancer [RCV003483586]|Hereditary cancer-predisposing syndrome [RCV000574111]|not provided [RCV000657104]|not specified [RCV002267983] | Chr19:50407050 [GRCh38] Chr19:50910307 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_002691.4(POLD1):c.804C>T (p.Leu268=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234187]|Hereditary cancer-predisposing syndrome [RCV002408969] | Chr19:50402499 [GRCh38] Chr19:50905756 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.334C>T (p.Pro112Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000232624] | Chr19:50401795 [GRCh38] Chr19:50905052 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083192]|Hereditary cancer-predisposing syndrome [RCV000575879]|POLD1-related condition [RCV003967634]|not provided [RCV000232660]|not specified [RCV000481032] | Chr19:50403143 [GRCh38] Chr19:50906400 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.612C>T (p.His204=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083412]|Hereditary cancer-predisposing syndrome [RCV000565381]|not provided [RCV000759244]|not specified [RCV000422949] | Chr19:50402227 [GRCh38] Chr19:50905484 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1137+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082229]|not provided [RCV000679472] | Chr19:50403228 [GRCh38] Chr19:50906485 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227201]|Hereditary cancer-predisposing syndrome [RCV000574478]|POLD1-related condition [RCV003919951]|not provided [RCV000985923]|not specified [RCV000610546] | Chr19:50407005 [GRCh38] Chr19:50910262 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1925C>G (p.Thr642Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227255]|Hereditary cancer-predisposing syndrome [RCV002408968] | Chr19:50409154 [GRCh38] Chr19:50912411 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1062G>A (p.Ala354=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227484]|Hereditary cancer-predisposing syndrome [RCV000575651]|POLD1-related condition [RCV003955328]|not provided [RCV001697611] | Chr19:50403144 [GRCh38] Chr19:50906401 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.882C>T (p.Asp294=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234219]|Hereditary cancer-predisposing syndrome [RCV000569636]|not specified [RCV000424014] | Chr19:50402653 [GRCh38] Chr19:50905910 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2825dup (p.Leu943fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000234313]|not provided [RCV000657280] | Chr19:50416397..50416398 [GRCh38] Chr19:50919654..50919655 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990268]|Hereditary cancer-predisposing syndrome [RCV000570956]|Polymerase proofreading-related adenomatous polyposis [RCV001354929]|not provided [RCV000588808]|not specified [RCV000427254] | Chr19:50416710 [GRCh38] Chr19:50919967 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.1932C>T (p.Asp644=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233085]|Hereditary cancer-predisposing syndrome [RCV000568535]|POLD1-related condition [RCV003955330]|not provided [RCV001697259]|not specified [RCV001818599] | Chr19:50409161 [GRCh38] Chr19:50912418 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3290G>A (p.Arg1097Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233144]|Hereditary cancer-predisposing syndrome [RCV003165623]|not provided [RCV000985935] | Chr19:50417913 [GRCh38] Chr19:50921170 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.645G>C (p.Ala215=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233320]|Hereditary cancer-predisposing syndrome [RCV000567497] | Chr19:50402260 [GRCh38] Chr19:50905517 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990254]|Hereditary cancer-predisposing syndrome [RCV000562279]|not provided [RCV000759210] | Chr19:50403174 [GRCh38] Chr19:50906431 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1884G>A (p.Gln628=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001494215]|Hereditary cancer-predisposing syndrome [RCV002408967] | Chr19:50408893 [GRCh38] Chr19:50912150 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1626C>T (p.Pro542=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081297]|Hereditary cancer-predisposing syndrome [RCV000568275]|not provided [RCV000679480] | Chr19:50407114 [GRCh38] Chr19:50910371 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.33C>T (p.Pro11=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079394]|Hereditary cancer-predisposing syndrome [RCV000564742]|not provided [RCV003114397]|not specified [RCV000435942] | Chr19:50398884 [GRCh38] Chr19:50902141 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2564+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227681] | Chr19:50414995 [GRCh38] Chr19:50918252 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.258G>A (p.Ala86=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001089309]|Hereditary cancer-predisposing syndrome [RCV000575327]|not provided [RCV000227852]|not specified [RCV003493541] | Chr19:50399426 [GRCh38] Chr19:50902683 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227915]|not provided [RCV000759223]|not specified [RCV000601623] | Chr19:50409184 [GRCh38] Chr19:50912441 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082258]|Hereditary cancer-predisposing syndrome [RCV000563576]|not provided [RCV000679506]|not specified [RCV000606071] | Chr19:50416611 [GRCh38] Chr19:50919868 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.2717+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990266]|not provided [RCV001284209] | Chr19:50415598 [GRCh38] Chr19:50918855 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.597T>C (p.Phe199=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000225895]|Hereditary cancer-predisposing syndrome [RCV000566708]|not specified [RCV000435454] | Chr19:50402212 [GRCh38] Chr19:50905469 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.900G>C (p.Pro300=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081456]|Hereditary cancer-predisposing syndrome [RCV000570785]|not provided [RCV000679533]|not specified [RCV000605448] | Chr19:50402671 [GRCh38] Chr19:50905928 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000233864]|Colorectal cancer, susceptibility to, 10 [RCV000764217]|Hereditary cancer-predisposing syndrome [RCV000563945]|not provided [RCV001589181]|not specified [RCV000602237] | Chr19:50403512 [GRCh38] Chr19:50906769 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.232C>T (p.Arg78Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234017]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001294003]|not provided [RCV001551924] | Chr19:50399400 [GRCh38] Chr19:50902657 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084000]|Hereditary cancer-predisposing syndrome [RCV000567879]|Malignant tumor of breast [RCV001356988]|See cases [RCV003128399]|not provided [RCV000679522]|not specified [RCV000506634] | Chr19:50402116 [GRCh38] Chr19:50905373 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1665C>T (p.Val555=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082021]|Hereditary cancer-predisposing syndrome [RCV000574633]|Malignant tumor of breast [RCV001354171]|not provided [RCV000759940]|not specified [RCV000439741] | Chr19:50407153 [GRCh38] Chr19:50910410 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.883G>A (p.Val295Met) | single nucleotide variant | Carcinoma of colon [RCV001356392]|Colorectal cancer, susceptibility to, 10 [RCV000990252]|Hereditary cancer-predisposing syndrome [RCV002257546]|POLD1-related condition [RCV003891813]|not provided [RCV000509515]|not specified [RCV000236306] | Chr19:50402654 [GRCh38] Chr19:50905911 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_002691.4(POLD1):c.2826G>A (p.Pro942=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228221]|Hereditary cancer-predisposing syndrome [RCV000569798]|not provided [RCV001722233] | Chr19:50416401 [GRCh38] Chr19:50919658 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001470070] | Chr19:50401768 [GRCh38] Chr19:50905025 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990255]|Hereditary cancer-predisposing syndrome [RCV000570044]|not provided [RCV000679474]|not specified [RCV000435266] | Chr19:50403537 [GRCh38] Chr19:50906794 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.497G>A (p.Arg166Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228410]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001197534]|not provided [RCV001558398] | Chr19:50402032 [GRCh38] Chr19:50905289 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2436G>C (p.Leu812=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226211]|Hereditary cancer-predisposing syndrome [RCV000570607]|not specified [RCV000423618] | Chr19:50414862 [GRCh38] Chr19:50918119 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1419G>A (p.Thr473=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001088094]|Hereditary cancer-predisposing syndrome [RCV000568055]|POLD1-related condition [RCV003919950]|not provided [RCV000226380] | Chr19:50406442 [GRCh38] Chr19:50909699 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2470A>G (p.Met824Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226463]|Familial colorectal cancer [RCV001535490]|Hereditary cancer-predisposing syndrome [RCV003165622]|not provided [RCV001547195] | Chr19:50414896 [GRCh38] Chr19:50918153 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.624G>A (p.Pro208=) | single nucleotide variant | Carcinoma of colon [RCV001356402]|Colorectal cancer, susceptibility to, 10 [RCV001083204]|Hereditary cancer-predisposing syndrome [RCV000561881]|not provided [RCV000759246]|not specified [RCV000428100] | Chr19:50402239 [GRCh38] Chr19:50905496 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1993A>G (p.Ser665Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234312]|Hereditary cancer-predisposing syndrome [RCV003165621] | Chr19:50409222 [GRCh38] Chr19:50912479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.208G>A (p.Val70Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082452]|POLD1-related condition [RCV003891809]|not provided [RCV000657092]|not specified [RCV000481096] | Chr19:50399376 [GRCh38] Chr19:50902633 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.355C>T (p.Arg119Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234495]|Hereditary cancer-predisposing syndrome [RCV000561181]|not provided [RCV000657122]|not specified [RCV002465585] | Chr19:50401816 [GRCh38] Chr19:50905073 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.469G>A (p.Gly157Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234504]|Hereditary cancer-predisposing syndrome [RCV000561390]|not provided [RCV000759241] | Chr19:50402004 [GRCh38] Chr19:50905261 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2424C>A (p.Arg808=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234561]|Hereditary cancer-predisposing syndrome [RCV002444896]|not specified [RCV003493540] | Chr19:50414850 [GRCh38] Chr19:50918107 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2427C>T (p.Tyr809=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228528]|Hereditary cancer-predisposing syndrome [RCV000568435]|not provided [RCV001711787]|not specified [RCV000421022] | Chr19:50414853 [GRCh38] Chr19:50918110 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.918C>A (p.Arg306=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228726]|Hereditary cancer-predisposing syndrome [RCV000568636] | Chr19:50402689 [GRCh38] Chr19:50905946 [GRCh37] Chr19:19q13.33 |
likely pathogenic|likely benign |
NM_002691.4(POLD1):c.971-4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081744]|Hereditary cancer-predisposing syndrome [RCV000572949]|not provided [RCV003477816]|not specified [RCV000433707] | Chr19:50403049 [GRCh38] Chr19:50906306 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1768C>T (p.Leu590Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226607] | Chr19:50407408 [GRCh38] Chr19:50910665 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226743]|Hereditary cancer-predisposing syndrome [RCV001014610]|not provided [RCV000759942] | Chr19:50409670 [GRCh38] Chr19:50912927 [GRCh37] Chr19:19q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.574C>T (p.Leu192=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226855]|Hereditary cancer-predisposing syndrome [RCV000562712]|POLD1-related condition [RCV003937896]|not specified [RCV000429368] | Chr19:50402109 [GRCh38] Chr19:50905366 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081021]|Hereditary cancer-predisposing syndrome [RCV002256144]|not provided [RCV000235427]|not specified [RCV000781761] | Chr19:50417880 [GRCh38] Chr19:50921137 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000226916]|Familial colorectal cancer [RCV000709593]|Hereditary cancer-predisposing syndrome [RCV002321871]|not provided [RCV000759957] | Chr19:50417916 [GRCh38] Chr19:50921173 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1494+5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227045]|Hereditary cancer-predisposing syndrome [RCV000572062]|POLD1-related condition [RCV003967636]|not provided [RCV000759934]|not specified [RCV003493538] | Chr19:50406522 [GRCh38] Chr19:50909779 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.1646G>A (p.Arg549His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000234700]|POLD1-related condition [RCV003417814]|not provided [RCV002288921] | Chr19:50407134 [GRCh38] Chr19:50910391 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000228917]|Hereditary cancer-predisposing syndrome [RCV000563603]|not provided [RCV001577805] | Chr19:50406234 [GRCh38] Chr19:50909491 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990263]|Hereditary cancer-predisposing syndrome [RCV000570932]|not provided [RCV001705259]|not specified [RCV000440964] | Chr19:50413828 [GRCh38] Chr19:50917085 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.529C>T (p.Arg177Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229041]|Hereditary cancer-predisposing syndrome [RCV002347886]|not provided [RCV001778816] | Chr19:50402064 [GRCh38] Chr19:50905321 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2454C>T (p.Pro818=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229068]|Hereditary cancer-predisposing syndrome [RCV000566004]|POLD1-related condition [RCV003897542]|not specified [RCV000440441] | Chr19:50414880 [GRCh38] Chr19:50918137 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.820G>A (p.Ala274Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000229086]|Colorectal cancer, susceptibility to, 10 [RCV002487066]|not provided [RCV002298546] | Chr19:50402515 [GRCh38] Chr19:50905772 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227114]|not provided [RCV000479764]|not specified [RCV001731537] | Chr19:50401855 [GRCh38] Chr19:50905112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227281]|Hereditary cancer-predisposing syndrome [RCV001026588]|POLD1-related condition [RCV003891812]|not provided [RCV000679525]|not specified [RCV000826021] | Chr19:50402378 [GRCh38] Chr19:50905635 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2966C>T (p.Thr989Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000227402]|Hereditary cancer-predisposing syndrome [RCV002436024]|not provided [RCV001566259] | Chr19:50416622 [GRCh38] Chr19:50919879 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2360C>T (p.Pro787Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000705985]|POLD1-related condition [RCV003907909]|not provided [RCV000235244] | Chr19:50413851 [GRCh38] Chr19:50917108 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2677G>A (p.Asp893Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475750]|not provided [RCV003165663]|not specified [RCV000235413] | Chr19:50415550 [GRCh38] Chr19:50918807 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3103G>C (p.Glu1035Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461189]|POLD1-related condition [RCV003401198]|not provided [RCV000235484]|not specified [RCV003493549] | Chr19:50417080 [GRCh38] Chr19:50920337 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457704]|Hereditary cancer-predisposing syndrome [RCV000571898]|Polymerase proofreading-related adenomatous polyposis [RCV001357798]|not provided [RCV000415831]|not specified [RCV000235786] | Chr19:50398931 [GRCh38] Chr19:50902188 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2548C>T (p.Arg850Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465875]|not provided [RCV000235805] | Chr19:50414974 [GRCh38] Chr19:50918231 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1028G>A (p.Arg343His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540733]|Hereditary cancer-predisposing syndrome [RCV000576104]|not provided [RCV000236082] | Chr19:50403110 [GRCh38] Chr19:50906367 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2704G>C (p.Glu902Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001222421]|not provided [RCV000236124] | Chr19:50415577 [GRCh38] Chr19:50918834 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.713C>T (p.Thr238Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475476]|Colorectal cancer, susceptibility to, 10 [RCV000764214]|not provided [RCV000236230] | Chr19:50402328 [GRCh38] Chr19:50905585 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+5G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000557728]|Hereditary cancer-predisposing syndrome [RCV000567382]|not provided [RCV000236235]|not specified [RCV001797693] | Chr19:50413526 [GRCh38] Chr19:50916783 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.931C>A (p.Arg311Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525488]|Hereditary cancer-predisposing syndrome [RCV001019165]|not provided [RCV000759971] | Chr19:50402702 [GRCh38] Chr19:50905959 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000412034]|not provided [RCV000679535]|not specified [RCV000236647] | Chr19:50403034 [GRCh38] Chr19:50906291 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.3219-19C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000411798]|not provided [RCV000679514] | Chr19:50417823 [GRCh38] Chr19:50921080 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2854A>G (p.Ile952Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051079]|not provided [RCV000236800] | Chr19:50416429 [GRCh38] Chr19:50919686 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.946G>A (p.Asp316Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699256]|Hereditary cancer-predisposing syndrome [RCV000574489]|not provided [RCV000236867] | Chr19:50402717 [GRCh38] Chr19:50905974 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.934G>A (p.Val312Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474151]|Familial colorectal cancer [RCV003483598]|Hereditary cancer-predisposing syndrome [RCV000565647]|not provided [RCV000759972] | Chr19:50402705 [GRCh38] Chr19:50905962 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467566]|not provided [RCV000657093]|not specified [RCV002268013] | Chr19:50413449 [GRCh38] Chr19:50916706 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2016C>T (p.Ala672=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082014]|Hereditary cancer-predisposing syndrome [RCV000563896]|not provided [RCV000759225]|not specified [RCV002465725] | Chr19:50409528 [GRCh38] Chr19:50912785 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3291G>A (p.Arg1097=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079660]|Hereditary cancer-predisposing syndrome [RCV000568952]|not provided [RCV000679516] | Chr19:50417914 [GRCh38] Chr19:50921171 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1240A>G (p.Lys414Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001854145]|not specified [RCV000605113] | Chr19:50403595 [GRCh38] Chr19:50906852 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1657G>A (p.Val553Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560136]|Hereditary cancer-predisposing syndrome [RCV002404492] | Chr19:50407145 [GRCh38] Chr19:50910402 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2824C>T (p.Pro942Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560470]|Hereditary cancer-predisposing syndrome [RCV002438439]|not provided [RCV000759229] | Chr19:50416399 [GRCh38] Chr19:50919656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2871C>T (p.Tyr957=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001445248]|Hereditary cancer-predisposing syndrome [RCV000562824] | Chr19:50416446 [GRCh38] Chr19:50919703 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.996C>T (p.Asp332=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000546157]|Hereditary cancer-predisposing syndrome [RCV000562881] | Chr19:50403078 [GRCh38] Chr19:50906335 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2712C>T (p.Ala904=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000526015]|Hereditary cancer-predisposing syndrome [RCV000563102] | Chr19:50415585 [GRCh38] Chr19:50918842 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1250C>G (p.Thr417Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563226] | Chr19:50406189 [GRCh38] Chr19:50909446 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.958G>A (p.Ala320Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533022]|Hereditary cancer-predisposing syndrome [RCV000564481]|not provided [RCV001538855] | Chr19:50402729 [GRCh38] Chr19:50905986 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.468C>T (p.Phe156=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000534356]|Hereditary cancer-predisposing syndrome [RCV000573190]|not specified [RCV000615462] | Chr19:50402003 [GRCh38] Chr19:50905260 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2542C>T (p.Leu848=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000524570]|Hereditary cancer-predisposing syndrome [RCV000568822] | Chr19:50414968 [GRCh38] Chr19:50918225 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.396T>C (p.Asp132=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645916]|Hereditary cancer-predisposing syndrome [RCV000564230] | Chr19:50401857 [GRCh38] Chr19:50905114 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1755T>C (p.Thr585=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537903]|Hereditary cancer-predisposing syndrome [RCV000573463] | Chr19:50407395 [GRCh38] Chr19:50910652 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1204G>A (p.Asp402Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000538343]|Hereditary cancer-predisposing syndrome [RCV000568783]|not provided [RCV001284039] | Chr19:50403559 [GRCh38] Chr19:50906816 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.457C>A (p.Pro153Thr) | single nucleotide variant | not provided [RCV001284333] | Chr19:50401918 [GRCh38] Chr19:50905175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002069505]|not provided [RCV001284334] | Chr19:50402448 [GRCh38] Chr19:50905705 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1471C>T (p.His491Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640913]|Hereditary cancer-predisposing syndrome [RCV000564393] | Chr19:50406494 [GRCh38] Chr19:50909751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.144C>T (p.His48=) | single nucleotide variant | not specified [RCV000603972] | Chr19:50398995 [GRCh38] Chr19:50902252 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-17C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063168]|not specified [RCV000604790] | Chr19:50402437 [GRCh38] Chr19:50905694 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-18C>T | single nucleotide variant | not specified [RCV000600150] | Chr19:50415706 [GRCh38] Chr19:50918963 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3300_3301delinsG (p.Pro1102fs) | indel | Hereditary cancer-predisposing syndrome [RCV000565077]|not provided [RCV000759958] | Chr19:50417923..50417924 [GRCh38] Chr19:50921180..50921181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1506C>A (p.Asp502Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001360908]|Hereditary cancer-predisposing syndrome [RCV000566171] | Chr19:50406994 [GRCh38] Chr19:50910251 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2953+12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001516689]|Hereditary cancer-predisposing syndrome [RCV002436083]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789278]|not provided [RCV000587096]|not specified [RCV000244063] | Chr19:50416540 [GRCh38] Chr19:50919797 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1485C>T (p.Thr495=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084451]|Hereditary cancer-predisposing syndrome [RCV000573764]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789277]|not provided [RCV000590679]|not specified [RCV000254099] | Chr19:50406508 [GRCh38] Chr19:50909765 [GRCh37] Chr19:19q13.33 |
benign |
NC_000019.10:g.(?_50399365)_(50401930_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000552001] | Chr19:50399365..50401930 [GRCh38] Chr19:50902622..50905187 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2346G>A (p.Val782=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001078542]|Hereditary cancer-predisposing syndrome [RCV000567173]|not provided [RCV000946318]|not specified [RCV000613277] | Chr19:50413837 [GRCh38] Chr19:50917094 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2232C>T (p.Gly744=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001439012]|Hereditary cancer-predisposing syndrome [RCV000568258] | Chr19:50413503 [GRCh38] Chr19:50916760 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1372G>A (p.Asp458Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001368309] | Chr19:50406311 [GRCh38] Chr19:50909568 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+84G>A | single nucleotide variant | not provided [RCV001547240] | Chr19:50403303 [GRCh38] Chr19:50906560 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2430G>A (p.Ala810=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087991]|Hereditary cancer-predisposing syndrome [RCV000575396]|POLD1-related condition [RCV003900194]|not provided [RCV000829402]|not specified [RCV002465706] | Chr19:50414856 [GRCh38] Chr19:50918113 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1224T>C (p.Ser408=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001412275] | Chr19:50403579 [GRCh38] Chr19:50906836 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1331G>A (p.Arg444Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645847]|Hereditary cancer-predisposing syndrome [RCV000565011]|not provided [RCV001785665] | Chr19:50406270 [GRCh38] Chr19:50909527 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-82A>T | single nucleotide variant | not provided [RCV002293002] | Chr19:50408703 [GRCh38] Chr19:50911960 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2006+16C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064031]|not specified [RCV000602812] | Chr19:50409251 [GRCh38] Chr19:50912508 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662514]|Hereditary cancer-predisposing syndrome [RCV000566269] | Chr19:50401776 [GRCh38] Chr19:50905033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1461G>A (p.Glu487=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084770]|Hereditary cancer-predisposing syndrome [RCV000567135]|POLD1-related condition [RCV003900266]|not provided [RCV000759933] | Chr19:50406484 [GRCh38] Chr19:50909741 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001229554]|Hereditary cancer-predisposing syndrome [RCV001011861]|not provided [RCV000522588] | Chr19:50406980 [GRCh38] Chr19:50910237 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.-2+13dup | duplication | not specified [RCV000600189] | Chr19:50384399..50384400 [GRCh38] Chr19:50887656..50887657 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063215]|not specified [RCV000600596] | Chr19:50415004 [GRCh38] Chr19:50918261 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2824C>G (p.Pro942Ala) | single nucleotide variant | not specified [RCV000601570] | Chr19:50416399 [GRCh38] Chr19:50919656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2301G>C (p.Ser767=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000942581]|Hereditary cancer-predisposing syndrome [RCV000567841]|not provided [RCV001530720] | Chr19:50413792 [GRCh38] Chr19:50917049 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2547C>T (p.Arg849=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645955]|Hereditary cancer-predisposing syndrome [RCV000565500] | Chr19:50414973 [GRCh38] Chr19:50918230 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1149C>A (p.Thr383=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645927]|Hereditary cancer-predisposing syndrome [RCV000565603]|not provided [RCV001704687] | Chr19:50403504 [GRCh38] Chr19:50906761 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1398G>A (p.Glu466=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001462796]|Hereditary cancer-predisposing syndrome [RCV000567995] | Chr19:50406421 [GRCh38] Chr19:50909678 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2432del (p.Gly811fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000568628] | Chr19:50414856 [GRCh38] Chr19:50918113 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.992G>C (p.Arg331Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569053] | Chr19:50403074 [GRCh38] Chr19:50906331 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1531T>C (p.Tyr511His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000806283] | Chr19:50407019 [GRCh38] Chr19:50910276 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2020C>T (p.Leu674=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001451583]|Hereditary cancer-predisposing syndrome [RCV000569162] | Chr19:50409532 [GRCh38] Chr19:50912789 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2892G>C (p.Lys964Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693953]|not provided [RCV000521769] | Chr19:50416467 [GRCh38] Chr19:50919724 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-13C>G | single nucleotide variant | not specified [RCV000603320] | Chr19:50417032 [GRCh38] Chr19:50920289 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064152]|not specified [RCV000604724] | Chr19:50402758 [GRCh38] Chr19:50906015 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409160] | Chr19:50403615 [GRCh38] Chr19:50906872 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2137T>A (p.Cys713Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000806319] | Chr19:50409649 [GRCh38] Chr19:50912906 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2335G>A (p.Ala779Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000806056]|Hereditary cancer-predisposing syndrome [RCV002453805]|not provided [RCV003238817] | Chr19:50413826 [GRCh38] Chr19:50917083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001209065]|Hereditary cancer-predisposing syndrome [RCV000571811] | Chr19:50403488 [GRCh38] Chr19:50906745 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.710G>A (p.Gly237Asp) | single nucleotide variant | not provided [RCV001760567] | Chr19:50402325 [GRCh38] Chr19:50905582 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410154] | Chr19:50407422 [GRCh38] Chr19:50910679 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409342]|not specified [RCV000417899] | Chr19:50407185 [GRCh38] Chr19:50910442 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409381]|not specified [RCV000443983] | Chr19:50415604 [GRCh38] Chr19:50918861 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1137+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409493]|not specified [RCV000443999] | Chr19:50403235 [GRCh38] Chr19:50906492 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.590-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409655]|Colorectal cancer, susceptibility to, 10 [RCV002488845]|Hereditary cancer-predisposing syndrome [RCV000567823]|not provided [RCV001546219] | Chr19:50402203 [GRCh38] Chr19:50905460 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-14C>T | single nucleotide variant | Carcinoma of colon [RCV001357021]|Colorectal cancer, susceptibility to, 10 [RCV000409979]|not provided [RCV000679507]|not specified [RCV000429756] | Chr19:50417031 [GRCh38] Chr19:50920288 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2717+15G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000409998] | Chr19:50415605 [GRCh38] Chr19:50918862 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+12G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410190] | Chr19:50402753 [GRCh38] Chr19:50906010 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410418] | Chr19:50408767 [GRCh38] Chr19:50912024 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-14G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410505]|Polymerase proofreading-related adenomatous polyposis [RCV001356969]|not provided [RCV000679508]|not specified [RCV000421943] | Chr19:50417158 [GRCh38] Chr19:50920415 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410659]|not provided [RCV000679498]|not specified [RCV000434439] | Chr19:50415421 [GRCh38] Chr19:50918678 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2155-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410770]|Polymerase proofreading-related adenomatous polyposis [RCV001355794]|not provided [RCV001706623]|not specified [RCV000442444] | Chr19:50413418 [GRCh38] Chr19:50916675 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410815]|POLD1-related condition [RCV003932529]|not specified [RCV000418981] | Chr19:50417286 [GRCh38] Chr19:50920543 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3120+12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410941]|Hereditary cancer-predisposing syndrome [RCV002256227]|not specified [RCV000423440] | Chr19:50417109 [GRCh38] Chr19:50920366 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1383+9G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000410972]|POLD1-related condition [RCV003950319]|not specified [RCV000506452] | Chr19:50406331 [GRCh38] Chr19:50909588 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000411749]|POLD1-related condition [RCV003897830]|not provided [RCV000759212]|not specified [RCV000420218] | Chr19:50403229 [GRCh38] Chr19:50906486 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000411960]|Hereditary cancer-predisposing syndrome [RCV002338968]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789323]|not provided [RCV000587348]|not specified [RCV000434530] | Chr19:50401932 [GRCh38] Chr19:50905189 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1892+11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000411974]|not specified [RCV000433826] | Chr19:50408912 [GRCh38] Chr19:50912169 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+10A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000412353]|Hereditary cancer-predisposing syndrome [RCV002446632]|not provided [RCV000586956]|not specified [RCV000444778] | Chr19:50417279 [GRCh38] Chr19:50920536 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_001256849.1(POLD1):c.3218+9_3218+10delCAinsTG | indel | Colorectal cancer 10 [RCV000412374] | Chr19:50417278..50417279 [GRCh38] Chr19:50920535..50920536 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645967]|Hereditary cancer-predisposing syndrome [RCV000571980] | Chr19:50417040 [GRCh38] Chr19:50920297 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.584G>A (p.Arg195Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533396]|not provided [RCV000679523] | Chr19:50402119 [GRCh38] Chr19:50905376 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000526667]|not provided [RCV002291661] | Chr19:50408777 [GRCh38] Chr19:50912034 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701372]|Hereditary cancer-predisposing syndrome [RCV000573321] | Chr19:50406520 [GRCh38] Chr19:50909777 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1371G>T (p.Met457Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530112]|Hereditary cancer-predisposing syndrome [RCV002384180] | Chr19:50406310 [GRCh38] Chr19:50909567 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.276G>A (p.Glu92=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533497]|Hereditary cancer-predisposing syndrome [RCV002438436] | Chr19:50399444 [GRCh38] Chr19:50902701 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2023G>A (p.Ala675Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533711]|Hereditary cancer-predisposing syndrome [RCV003302857] | Chr19:50409535 [GRCh38] Chr19:50912792 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.501_524del (p.Glu167_Arg174del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000534127] | Chr19:50402031..50402054 [GRCh38] Chr19:50905288..50905311 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+4C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645854]|Hereditary cancer-predisposing syndrome [RCV000573849]|not provided [RCV001770523] | Chr19:50402539 [GRCh38] Chr19:50905796 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1140C>A (p.Ala380=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000534863]|Hereditary cancer-predisposing syndrome [RCV002456165] | Chr19:50403495 [GRCh38] Chr19:50906752 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2124G>A (p.Val708=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000977852]|Hereditary cancer-predisposing syndrome [RCV000574747]|not provided [RCV002253511] | Chr19:50409636 [GRCh38] Chr19:50912893 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1200C>T (p.Asn400=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001453417]|Hereditary cancer-predisposing syndrome [RCV000572209] | Chr19:50403555 [GRCh38] Chr19:50906812 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.27A>G (p.Pro9=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001490240]|Hereditary cancer-predisposing syndrome [RCV000572295] | Chr19:50398878 [GRCh38] Chr19:50902135 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.530G>A (p.Arg177His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527163]|Hereditary cancer-predisposing syndrome [RCV002258959]|not provided [RCV000679520]|not specified [RCV003493636] | Chr19:50402065 [GRCh38] Chr19:50905322 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.673C>T (p.Arg225Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527711]|Hereditary cancer-predisposing syndrome [RCV002367889]|not provided [RCV001770456] | Chr19:50402288 [GRCh38] Chr19:50905545 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.563T>G (p.Leu188Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530200]|Hereditary cancer-predisposing syndrome [RCV002350313]|not provided [RCV001575663] | Chr19:50402098 [GRCh38] Chr19:50905355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.725C>T (p.Ala242Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531056]|Hereditary cancer-predisposing syndrome [RCV002384182]|not provided [RCV002060335] | Chr19:50402340 [GRCh38] Chr19:50905597 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.64C>T (p.Leu22Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000535041]|not provided [RCV003222030] | Chr19:50398915 [GRCh38] Chr19:50902172 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2302del (p.Val768fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000535256] | Chr19:50413792 [GRCh38] Chr19:50917049 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3147G>A (p.Glu1049=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573960] | Chr19:50417198 [GRCh38] Chr19:50920455 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000535591] | Chr19:50415831 [GRCh38] Chr19:50919088 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2629G>A (p.Asp877Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000535664]|not provided [RCV000996993] | Chr19:50415502 [GRCh38] Chr19:50918759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.458C>T (p.Pro153Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000535721] | Chr19:50401919 [GRCh38] Chr19:50905176 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2T>A (p.Met1Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000411507]|Hereditary cancer-predisposing syndrome [RCV000570492] | Chr19:50398853 [GRCh38] Chr19:50902110 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000411571] | Chr19:50407189 [GRCh38] Chr19:50910446 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.999T>C (p.Pro333=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000945613]|Hereditary cancer-predisposing syndrome [RCV000573299]|not provided [RCV001707745] | Chr19:50403081 [GRCh38] Chr19:50906338 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2961C>T (p.Asp987=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001474768]|Hereditary cancer-predisposing syndrome [RCV000573592]|POLD1-related condition [RCV003900267] | Chr19:50416617 [GRCh38] Chr19:50919874 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.153G>A (p.Gln51=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573995] | Chr19:50399004 [GRCh38] Chr19:50902261 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1422C>T (p.Leu474=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001088485]|Hereditary cancer-predisposing syndrome [RCV001011515]|not provided [RCV000579149] | Chr19:50406445 [GRCh38] Chr19:50909702 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.3009G>A (p.Leu1003=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645958]|Hereditary cancer-predisposing syndrome [RCV000574903] | Chr19:50416665 [GRCh38] Chr19:50919922 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.846G>A (p.Thr282=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079180]|Hereditary cancer-predisposing syndrome [RCV000572539]|not provided [RCV000679529]|not specified [RCV000612477] | Chr19:50402617 [GRCh38] Chr19:50905874 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.916C>T (p.Arg306Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536988]|Hereditary cancer-predisposing syndrome [RCV003159862]|not provided [RCV001584302] | Chr19:50402687 [GRCh38] Chr19:50905944 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.83C>T (p.Ala28Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537097]|Hereditary cancer-predisposing syndrome [RCV002438444]|not provided [RCV001764580] | Chr19:50398934 [GRCh38] Chr19:50902191 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2455G>A (p.Asp819Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537584]|Hereditary cancer-predisposing syndrome [RCV003159858]|not provided [RCV001591247] | Chr19:50414881 [GRCh38] Chr19:50918138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1367A>T (p.Gln456Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000799753]|Hereditary cancer-predisposing syndrome [RCV000571009]|not provided [RCV001284040] | Chr19:50406306 [GRCh38] Chr19:50909563 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2578G>A (p.Ala860Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000538457]|Hereditary cancer-predisposing syndrome [RCV002431653] | Chr19:50415451 [GRCh38] Chr19:50918708 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645961]|Hereditary cancer-predisposing syndrome [RCV000574284]|not provided [RCV003478262]|not specified [RCV000613814] | Chr19:50403048 [GRCh38] Chr19:50906305 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2058G>C (p.Leu686=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525918]|Hereditary cancer-predisposing syndrome [RCV000575002] | Chr19:50409570 [GRCh38] Chr19:50912827 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-2del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640911]|Hereditary cancer-predisposing syndrome [RCV000569535]|not provided [RCV000759236] | Chr19:50416608 [GRCh38] Chr19:50919865 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1023_1033del (p.Leu342fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000571224] | Chr19:50403098..50403108 [GRCh38] Chr19:50906355..50906365 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1561C>T (p.Arg521Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539274]|Hereditary cancer-predisposing syndrome [RCV001012187]|not provided [RCV003114670] | Chr19:50407049 [GRCh38] Chr19:50910306 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.358G>A (p.Gly120Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539779]|not provided [RCV000985937] | Chr19:50401819 [GRCh38] Chr19:50905076 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.213A>G (p.Pro71=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645895]|Hereditary cancer-predisposing syndrome [RCV000569652] | Chr19:50399381 [GRCh38] Chr19:50902638 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2722A>G (p.Arg908Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525097] | Chr19:50415728 [GRCh38] Chr19:50918985 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3115_3117del (p.Lys1039del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000690018]|Hereditary cancer-predisposing syndrome [RCV000574435] | Chr19:50417090..50417092 [GRCh38] Chr19:50920347..50920349 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2458G>A (p.Ala820Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000549076]|Colorectal cancer, susceptibility to, 10 [RCV001535544]|not provided [RCV003153713] | Chr19:50414884 [GRCh38] Chr19:50918141 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.1029C>T (p.Arg343=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000960738]|Hereditary cancer-predisposing syndrome [RCV000564782]|not specified [RCV002268191] | Chr19:50403111 [GRCh38] Chr19:50906368 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541571] | Chr19:50416533 [GRCh38] Chr19:50919790 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1615A>G (p.Thr539Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001232329]|Hereditary cancer-predisposing syndrome [RCV000574567] | Chr19:50407103 [GRCh38] Chr19:50910360 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1486G>C (p.Asp496His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002528157]|Hereditary cancer-predisposing syndrome [RCV000568173] | Chr19:50406509 [GRCh38] Chr19:50909766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1617T>C (p.Thr539=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000552130]|Hereditary cancer-predisposing syndrome [RCV000575008]|not specified [RCV000423722] | Chr19:50407105 [GRCh38] Chr19:50910362 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002065025]|not specified [RCV000430867] | Chr19:50407431 [GRCh38] Chr19:50910688 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001485611]|not specified [RCV000430878] | Chr19:50408911 [GRCh38] Chr19:50912168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1261C>T (p.Leu421=) | single nucleotide variant | not specified [RCV000430915] | Chr19:50406200 [GRCh38] Chr19:50909457 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.774G>T (p.Thr258=) | single nucleotide variant | not specified [RCV000431058] | Chr19:50402469 [GRCh38] Chr19:50905726 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) | single nucleotide variant | Carcinoma of colon [RCV001357148]|Colorectal cancer, susceptibility to, 10 [RCV000461093]|Hereditary cancer-predisposing syndrome [RCV000575809]|not provided [RCV000585945]|not specified [RCV000437779] | Chr19:50408869 [GRCh38] Chr19:50912126 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2760C>T (p.Asp920=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001426862]|Hereditary cancer-predisposing syndrome [RCV002436267]|not specified [RCV000437802] | Chr19:50415766 [GRCh38] Chr19:50919023 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2313G>A (p.Ala771=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645941]|Hereditary cancer-predisposing syndrome [RCV002446739]|POLD1-related condition [RCV003899885]|not provided [RCV001721399] | Chr19:50413804 [GRCh38] Chr19:50917061 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3249G>A (p.Lys1083=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079519]|Hereditary cancer-predisposing syndrome [RCV000570440]|not provided [RCV000585425]|not specified [RCV002268052] | Chr19:50417872 [GRCh38] Chr19:50921129 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2727G>A (p.Lys909=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081521]|Hereditary cancer-predisposing syndrome [RCV000561262]|not provided [RCV000679502]|not specified [RCV000441369] | Chr19:50415733 [GRCh38] Chr19:50918990 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.495A>G (p.Gln165=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527359]|Hereditary cancer-predisposing syndrome [RCV000562245]|not provided [RCV001698318] | Chr19:50402030 [GRCh38] Chr19:50905287 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2832C>T (p.Phe944=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081230]|Hereditary cancer-predisposing syndrome [RCV000565186]|POLD1-related condition [RCV003932695]|not provided [RCV000759230] | Chr19:50416407 [GRCh38] Chr19:50919664 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.387G>C (p.Gly129=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002525346]|not specified [RCV000444960] | Chr19:50401848 [GRCh38] Chr19:50905105 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-16C>T | single nucleotide variant | not specified [RCV000444990] | Chr19:50417826 [GRCh38] Chr19:50921083 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662375]|not specified [RCV000445050] | Chr19:50409504 [GRCh38] Chr19:50912761 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+13G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002060032]|not specified [RCV000445079] | Chr19:50399497 [GRCh38] Chr19:50902754 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062650]|not specified [RCV000417755] | Chr19:50399064 [GRCh38] Chr19:50902321 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059029]|not specified [RCV000420880] | Chr19:50403230 [GRCh38] Chr19:50906487 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1992C>T (p.Leu664=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003766332]|not specified [RCV000423831] | Chr19:50409221 [GRCh38] Chr19:50912478 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1041G>A (p.Pro347=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473266]|Hereditary cancer-predisposing syndrome [RCV000575044]|not provided [RCV001712303] | Chr19:50403123 [GRCh38] Chr19:50906380 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.24C>T (p.Gly8=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537844]|Hereditary cancer-predisposing syndrome [RCV000574761]|not provided [RCV001698213] | Chr19:50398875 [GRCh38] Chr19:50902132 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1338C>A (p.Thr446=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000877591]|Hereditary cancer-predisposing syndrome [RCV001011111]|not provided [RCV001720140] | Chr19:50406277 [GRCh38] Chr19:50909534 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2502G>A (p.Arg834=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062614]|Hereditary cancer-predisposing syndrome [RCV000573778]|not specified [RCV000427450] | Chr19:50414928 [GRCh38] Chr19:50918185 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990256]|Hereditary cancer-predisposing syndrome [RCV000573167]|not provided [RCV000477152]|not specified [RCV000434434] | Chr19:50407084 [GRCh38] Chr19:50910341 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.726G>A (p.Ala242=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000876133]|Hereditary cancer-predisposing syndrome [RCV000561083]|not provided [RCV001698273] | Chr19:50402341 [GRCh38] Chr19:50905598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-12C>T | single nucleotide variant | Carcinoma of colon [RCV001354158]|Colorectal cancer, susceptibility to, 10 [RCV001523325]|Hereditary cancer-predisposing syndrome [RCV002379317]|not specified [RCV000434558] | Chr19:50403041 [GRCh38] Chr19:50906298 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1536C>T (p.Cys512=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645897]|Hereditary cancer-predisposing syndrome [RCV002402147]|not specified [RCV000437860] | Chr19:50407024 [GRCh38] Chr19:50910281 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-12A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003316541]|Hereditary cancer-predisposing syndrome [RCV002436258]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789342]|not provided [RCV000588017]|not specified [RCV000445128] | Chr19:50415712 [GRCh38] Chr19:50918969 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) | single nucleotide variant | Carcinoma of colon [RCV001358127]|Colorectal cancer, susceptibility to, 10 [RCV000456915]|Hereditary cancer-predisposing syndrome [RCV000563506]|not provided [RCV000587462]|not specified [RCV000445323] | Chr19:50407027 [GRCh38] Chr19:50910284 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.608G>A (p.Gly203Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000697950] | Chr19:50402223 [GRCh38] Chr19:50905480 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.867C>T (p.Asp289=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001447370]|Hereditary cancer-predisposing syndrome [RCV002374694]|not specified [RCV000417836] | Chr19:50402638 [GRCh38] Chr19:50905895 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473678]|Hereditary cancer-predisposing syndrome [RCV000567087]|not specified [RCV000417873] | Chr19:50416532 [GRCh38] Chr19:50919789 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.-2+12G>A | single nucleotide variant | not specified [RCV000418012] | Chr19:50384402 [GRCh38] Chr19:50887659 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990258]|Hereditary cancer-predisposing syndrome [RCV000561424]|not provided [RCV001704298] | Chr19:50407123 [GRCh38] Chr19:50910380 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1746G>A (p.Thr582=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084915]|Hereditary cancer-predisposing syndrome [RCV000569384]|not provided [RCV000679482]|not specified [RCV000424082] | Chr19:50407386 [GRCh38] Chr19:50910643 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-7T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000934780]|not provided [RCV003477934]|not specified [RCV000424128] | Chr19:50406175 [GRCh38] Chr19:50909432 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063571]|not specified [RCV000427768] | Chr19:50406340 [GRCh38] Chr19:50909597 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.102C>T (p.Phe34=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000555450]|Hereditary cancer-predisposing syndrome [RCV000564338]|POLD1-related condition [RCV003897901]|not provided [RCV001704352]|not specified [RCV001844161] | Chr19:50398953 [GRCh38] Chr19:50902210 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1926C>T (p.Thr642=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000975303]|Hereditary cancer-predisposing syndrome [RCV002411383]|not specified [RCV000427783] | Chr19:50409155 [GRCh38] Chr19:50912412 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473547]|Hereditary cancer-predisposing syndrome [RCV000569150]|not provided [RCV002275028]|not specified [RCV000431391] | Chr19:50416391 [GRCh38] Chr19:50919648 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.732C>T (p.Tyr244=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082412]|Hereditary cancer-predisposing syndrome [RCV000566966]|not provided [RCV000473912] | Chr19:50402347 [GRCh38] Chr19:50905604 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1212G>A (p.Pro404=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457147]|Hereditary cancer-predisposing syndrome [RCV000562017]|not specified [RCV000431427] | Chr19:50403567 [GRCh38] Chr19:50906824 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063503]|not specified [RCV000431500] | Chr19:50413539 [GRCh38] Chr19:50916796 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2457C>T (p.Asp819=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001088513]|Hereditary cancer-predisposing syndrome [RCV000567613]|not provided [RCV000679496] | Chr19:50414883 [GRCh38] Chr19:50918140 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.741C>T (p.Asn247=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541083]|Hereditary cancer-predisposing syndrome [RCV000573745]|not provided [RCV001698144] | Chr19:50402356 [GRCh38] Chr19:50905613 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640896]|not specified [RCV000434606] | Chr19:50399357 [GRCh38] Chr19:50902614 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2006+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662622]|not specified [RCV000434666] | Chr19:50409251 [GRCh38] Chr19:50912508 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.-1-5A>T | single nucleotide variant | not specified [RCV000438176] | Chr19:50398846 [GRCh38] Chr19:50902103 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+11T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062748]|POLD1-related condition [RCV003922779]|not specified [RCV000441736] | Chr19:50417280 [GRCh38] Chr19:50920537 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.474C>T (p.Pro158=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468174]|Hereditary cancer-predisposing syndrome [RCV002256233]|not provided [RCV001704487] | Chr19:50402009 [GRCh38] Chr19:50905266 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002058982]|not specified [RCV000418212] | Chr19:50417108 [GRCh38] Chr19:50920365 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.356G>A (p.Arg119His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001517296]|Hereditary cancer-predisposing syndrome [RCV000563897]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789341]|not provided [RCV000587162]|not specified [RCV000424291] | Chr19:50401817 [GRCh38] Chr19:50905074 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525901]|not provided [RCV000424325] | Chr19:50417831 [GRCh38] Chr19:50921088 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2691G>A (p.Lys897=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001454827]|Hereditary cancer-predisposing syndrome [RCV002451020]|not specified [RCV000418285] | Chr19:50415564 [GRCh38] Chr19:50918821 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1464C>T (p.Asp488=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541154]|Hereditary cancer-predisposing syndrome [RCV000573619]|not provided [RCV001698351]|not specified [RCV000418300] | Chr19:50406487 [GRCh38] Chr19:50909744 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2193C>T (p.Thr731=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000556144]|Hereditary cancer-predisposing syndrome [RCV000565427]|POLD1-related condition [RCV003959928]|not provided [RCV001698207] | Chr19:50413464 [GRCh38] Chr19:50916721 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3258G>C (p.Arg1086=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471191]|Hereditary cancer-predisposing syndrome [RCV000570406]|not provided [RCV001535417]|not specified [RCV000424526] | Chr19:50417881 [GRCh38] Chr19:50921138 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) | single nucleotide variant | Carcinoma of colon [RCV001357026]|Colorectal cancer, susceptibility to, 10 [RCV001084357]|Hereditary cancer-predisposing syndrome [RCV000569972]|not provided [RCV000586444]|not specified [RCV000424652] | Chr19:50402053 [GRCh38] Chr19:50905310 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.970+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001865381]|not specified [RCV000431860] | Chr19:50402752 [GRCh38] Chr19:50906009 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2374C>T (p.Leu792=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000865192]|Hereditary cancer-predisposing syndrome [RCV000565605]|not specified [RCV000438542] | Chr19:50413865 [GRCh38] Chr19:50917122 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1323G>C (p.Thr441=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000935796]|Hereditary cancer-predisposing syndrome [RCV000569215]|not provided [RCV001704424] | Chr19:50406262 [GRCh38] Chr19:50909519 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063379]|not specified [RCV000442395] | Chr19:50409677 [GRCh38] Chr19:50912934 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3035G>A (p.Cys1012Tyr) | single nucleotide variant | Colorectal cancer [RCV000417275]|Colorectal cancer, susceptibility to, 10 [RCV000805073] | Chr19:50416691 [GRCh38] Chr19:50919948 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp) | single nucleotide variant | Colorectal cancer [RCV000417319] | Chr19:50416697 [GRCh38] Chr19:50919954 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2389-15A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001865365]|not specified [RCV000418513] | Chr19:50414800 [GRCh38] Chr19:50918057 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000663268]|not provided [RCV001703694] | Chr19:50417032 [GRCh38] Chr19:50920289 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.639C>T (p.Thr213=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081668]|Hereditary cancer-predisposing syndrome [RCV000572289]|not provided [RCV003389718]|not specified [RCV000424704] | Chr19:50402254 [GRCh38] Chr19:50905511 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2388+9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553925]|not specified [RCV000424834] | Chr19:50413888 [GRCh38] Chr19:50917145 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2388+4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645863]|Hereditary cancer-predisposing syndrome [RCV000563325]|not provided [RCV000985928] | Chr19:50413883 [GRCh38] Chr19:50917140 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2820+7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473424]|Hereditary cancer-predisposing syndrome [RCV002257675]|not specified [RCV000435268] | Chr19:50415833 [GRCh38] Chr19:50919090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1872C>T (p.Pro624=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467042]|Hereditary cancer-predisposing syndrome [RCV000569501]|not provided [RCV001720207] | Chr19:50408881 [GRCh38] Chr19:50912138 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000477477]|not specified [RCV000435355] | Chr19:50401770 [GRCh38] Chr19:50905027 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059025]|not specified [RCV000438826] | Chr19:50413538 [GRCh38] Chr19:50916795 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2757C>T (p.Gly919=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457087]|Hereditary cancer-predisposing syndrome [RCV000565588]|not specified [RCV000442433] | Chr19:50415763 [GRCh38] Chr19:50919020 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1243-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059623]|not provided [RCV001712382] | Chr19:50406169 [GRCh38] Chr19:50909426 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.324G>A (p.Ala108=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001517295]|Hereditary cancer-predisposing syndrome [RCV000572902]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789340]|not provided [RCV000588710]|not specified [RCV000442660] | Chr19:50401785 [GRCh38] Chr19:50905042 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.-32A>G | single nucleotide variant | not specified [RCV000418886] | Chr19:50384360 [GRCh38] Chr19:50887617 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.864G>A (p.Ala288=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001079598]|Hereditary cancer-predisposing syndrome [RCV000570018]|not provided [RCV000679531]|not specified [RCV000421552] | Chr19:50402635 [GRCh38] Chr19:50905892 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001396598]|not specified [RCV000421617] | Chr19:50416604 [GRCh38] Chr19:50919861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3297C>T (p.Phe1099=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458987]|Hereditary cancer-predisposing syndrome [RCV000564717]|not provided [RCV001698269] | Chr19:50417920 [GRCh38] Chr19:50921177 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.900G>A (p.Pro300=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990253]|Hereditary cancer-predisposing syndrome [RCV000561529]|not provided [RCV000463694] | Chr19:50402671 [GRCh38] Chr19:50905928 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2454C>G (p.Pro818=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470115]|Hereditary cancer-predisposing syndrome [RCV000569365]|POLD1-related condition [RCV003902506]|not provided [RCV001720063] | Chr19:50414880 [GRCh38] Chr19:50918137 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2169C>T (p.Phe723=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001089371]|Hereditary cancer-predisposing syndrome [RCV000573796]|not provided [RCV000759944] | Chr19:50413440 [GRCh38] Chr19:50916697 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2371C>T (p.Arg791Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000817907]|Hereditary cancer-predisposing syndrome [RCV002451025]|not provided [RCV000435445] | Chr19:50413862 [GRCh38] Chr19:50917119 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.783C>G (p.Val261=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000895348]|Hereditary cancer-predisposing syndrome [RCV002411375]|not specified [RCV000442746] | Chr19:50402478 [GRCh38] Chr19:50905735 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.783C>T (p.Val261=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082956]|Colorectal cancer, susceptibility to, 10 [RCV002488912]|Hereditary cancer-predisposing syndrome [RCV000574388]|not provided [RCV003418116]|not specified [RCV000419059] | Chr19:50402478 [GRCh38] Chr19:50905735 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.758+8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469339]|not provided [RCV000759252]|not specified [RCV000419063] | Chr19:50402381 [GRCh38] Chr19:50905638 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+3A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475480]|Hereditary cancer-predisposing syndrome [RCV000572515]|not provided [RCV001712238]|not specified [RCV000421660] | Chr19:50399056 [GRCh38] Chr19:50902313 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001256849.1(POLD1):c.-51G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990244]|not provided [RCV002510888]|not specified [RCV000425282] | Chr19:50384344 [GRCh38] Chr19:50887601 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2763C>A (p.Arg921=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436292]|not specified [RCV000432165] | Chr19:50415769 [GRCh38] Chr19:50919026 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.873G>A (p.Leu291=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645898]|Hereditary cancer-predisposing syndrome [RCV000561385]|not specified [RCV000432166] | Chr19:50402644 [GRCh38] Chr19:50905901 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+15A>G | single nucleotide variant | not specified [RCV000435647] | Chr19:50402139 [GRCh38] Chr19:50905396 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2967G>T (p.Thr989=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000559440]|Hereditary cancer-predisposing syndrome [RCV002436313]|not specified [RCV000435715] | Chr19:50416623 [GRCh38] Chr19:50919880 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+15T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062454]|not specified [RCV000435749] | Chr19:50409250 [GRCh38] Chr19:50912507 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2001G>A (p.Arg667=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527968]|Hereditary cancer-predisposing syndrome [RCV002418273]|not specified [RCV000435757] | Chr19:50409230 [GRCh38] Chr19:50912487 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.15G>T (p.Arg5=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001440850]|not specified [RCV000439279] | Chr19:50398866 [GRCh38] Chr19:50902123 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1824G>A (p.Pro608=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000554506]|Hereditary cancer-predisposing syndrome [RCV000569543]|POLD1-related condition [RCV003959987]|not provided [RCV001704519]|not specified [RCV000439280] | Chr19:50408833 [GRCh38] Chr19:50912090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.357C>T (p.Arg119=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525074]|Hereditary cancer-predisposing syndrome [RCV000575369]|not provided [RCV001712276]|not specified [RCV000439371] | Chr19:50401818 [GRCh38] Chr19:50905075 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2787C>T (p.Ala929=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087575]|Hereditary cancer-predisposing syndrome [RCV000571738]|not provided [RCV000679504]|not specified [RCV001821194] | Chr19:50415793 [GRCh38] Chr19:50919050 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2493C>T (p.Ala831=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471847]|Hereditary cancer-predisposing syndrome [RCV002429419]|not specified [RCV000442881] | Chr19:50414919 [GRCh38] Chr19:50918176 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3006C>T (p.Leu1002=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537558]|Hereditary cancer-predisposing syndrome [RCV000563248]|not provided [RCV001720250]|not specified [RCV001821186] | Chr19:50416662 [GRCh38] Chr19:50919919 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2670G>A (p.Ala890=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560824]|Hereditary cancer-predisposing syndrome [RCV000567500]|POLD1-related condition [RCV003942457]|not provided [RCV001698336] | Chr19:50415543 [GRCh38] Chr19:50918800 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2904C>T (p.Arg968=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001488216]|Hereditary cancer-predisposing syndrome [RCV000565177]|not specified [RCV000422011] | Chr19:50416479 [GRCh38] Chr19:50919736 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.663C>A (p.Ala221=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464116]|Hereditary cancer-predisposing syndrome [RCV000568687]|POLD1-related condition [RCV003897889]|not provided [RCV001712256] | Chr19:50402278 [GRCh38] Chr19:50905535 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1113C>T (p.Tyr371=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000559239]|Hereditary cancer-predisposing syndrome [RCV000562606]|not provided [RCV001284037] | Chr19:50403195 [GRCh38] Chr19:50906452 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1785C>T (p.Asp595=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086189]|Colorectal cancer, susceptibility to, 10 [RCV002506038]|Hereditary cancer-predisposing syndrome [RCV000570285]|not provided [RCV000759219]|not specified [RCV000436014] | Chr19:50408794 [GRCh38] Chr19:50912051 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.590-14T>C | single nucleotide variant | not specified [RCV000439551] | Chr19:50402191 [GRCh38] Chr19:50905448 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1863C>T (p.Leu621=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475559]|Hereditary cancer-predisposing syndrome [RCV000569934]|not provided [RCV001703843]|not specified [RCV002469148] | Chr19:50408872 [GRCh38] Chr19:50912129 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2610C>T (p.Asp870=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000532022]|Hereditary cancer-predisposing syndrome [RCV002429410]|not specified [RCV000419549] | Chr19:50415483 [GRCh38] Chr19:50918740 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059646]|not specified [RCV000422216] | Chr19:50417283 [GRCh38] Chr19:50920540 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063356]|not specified [RCV000422233] | Chr19:50414807 [GRCh38] Chr19:50918064 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+13G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062541]|not specified [RCV000429347] | Chr19:50406335 [GRCh38] Chr19:50909592 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2598C>T (p.Asp866=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083081]|Hereditary cancer-predisposing syndrome [RCV000566238]|not provided [RCV000472290]|not specified [RCV002268059] | Chr19:50415471 [GRCh38] Chr19:50918728 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.951C>T (p.Ile317=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528544]|Hereditary cancer-predisposing syndrome [RCV001019441]|POLD1-related condition [RCV003970211]|not provided [RCV001721375] | Chr19:50402722 [GRCh38] Chr19:50905979 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) | single nucleotide variant | Carcinoma of colon [RCV001357635]|Colorectal cancer, susceptibility to, 10 [RCV001079838]|Hereditary cancer-predisposing syndrome [RCV000571194]|not provided [RCV000588381]|not specified [RCV000436068] | Chr19:50403528 [GRCh38] Chr19:50906785 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1869G>T (p.Arg623=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001085593]|Hereditary cancer-predisposing syndrome [RCV000679000]|not provided [RCV000679485] | Chr19:50408878 [GRCh38] Chr19:50912135 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.558C>T (p.Ala186=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458132]|Hereditary cancer-predisposing syndrome [RCV000564068]|POLD1-related condition [RCV003912770]|not provided [RCV001712398] | Chr19:50402093 [GRCh38] Chr19:50905350 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059567]|not specified [RCV000439807] | Chr19:50417157 [GRCh38] Chr19:50920414 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2463C>T (p.His821=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000875969]|Hereditary cancer-predisposing syndrome [RCV000565820]|not provided [RCV000443434]|not specified [RCV002268057] | Chr19:50414889 [GRCh38] Chr19:50918146 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.957C>T (p.Cys319=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001083760]|Hereditary cancer-predisposing syndrome [RCV000564007]|POLD1-related condition [RCV003932685]|not provided [RCV000759973] | Chr19:50402728 [GRCh38] Chr19:50905985 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2661G>A (p.Leu887=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001439388]|Hereditary cancer-predisposing syndrome [RCV000564196]|not specified [RCV000425957] | Chr19:50415534 [GRCh38] Chr19:50918791 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.933C>T (p.Arg311=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540051]|Colorectal cancer, susceptibility to, 10 [RCV002502568]|Hereditary cancer-predisposing syndrome [RCV000574781]|not provided [RCV001704493]|not specified [RCV000425991] | Chr19:50402704 [GRCh38] Chr19:50905961 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2772C>T (p.Tyr924=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464517]|Hereditary cancer-predisposing syndrome [RCV000574065]|POLD1-related condition [RCV003899894]|not provided [RCV001698327]|not specified [RCV002282145] | Chr19:50415778 [GRCh38] Chr19:50919035 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1842C>T (p.His614=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001416800]|Hereditary cancer-predisposing syndrome [RCV002411344]|not provided [RCV001697805] | Chr19:50408851 [GRCh38] Chr19:50912108 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062763]|not specified [RCV000429641] | Chr19:50407309 [GRCh38] Chr19:50910566 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1243-14C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059738]|not specified [RCV000432964] | Chr19:50406168 [GRCh38] Chr19:50909425 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002521770]|not specified [RCV000432992] | Chr19:50401987 [GRCh38] Chr19:50905244 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2763C>T (p.Arg921=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462132]|Hereditary cancer-predisposing syndrome [RCV000575946]|not provided [RCV001703777] | Chr19:50415769 [GRCh38] Chr19:50919026 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2920C>T (p.Leu974=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645936]|Hereditary cancer-predisposing syndrome [RCV000561265]|POLD1-related condition [RCV003912672]|not specified [RCV000436393] | Chr19:50416495 [GRCh38] Chr19:50919752 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082390]|Hereditary cancer-predisposing syndrome [RCV000564139]|not provided [RCV000679512]|not specified [RCV000436470] | Chr19:50417255 [GRCh38] Chr19:50920512 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.2007-14G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662881]|not specified [RCV000439918] | Chr19:50409505 [GRCh38] Chr19:50912762 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1695C>T (p.His565=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000560370]|Hereditary cancer-predisposing syndrome [RCV000571443]|POLD1-related condition [RCV003897924]|not provided [RCV001698258] | Chr19:50407335 [GRCh38] Chr19:50910592 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062341]|not specified [RCV000440039] | Chr19:50409252 [GRCh38] Chr19:50912509 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2580G>A (p.Ala860=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553361]|Hereditary cancer-predisposing syndrome [RCV002257678]|POLD1-related condition [RCV003902567]|not provided [RCV001704274] | Chr19:50415453 [GRCh38] Chr19:50918710 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640891]|not specified [RCV000443692] | Chr19:50407425 [GRCh38] Chr19:50910682 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-7T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000976090]|not specified [RCV000419995] | Chr19:50406175 [GRCh38] Chr19:50909432 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1815G>A (p.Ser605=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464303]|Hereditary cancer-predisposing syndrome [RCV000571614]|not provided [RCV001696758] | Chr19:50408824 [GRCh38] Chr19:50912081 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2988G>A (p.Thr996=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086113]|Endometrial carcinoma [RCV001357244]|Hereditary cancer-predisposing syndrome [RCV000568884]|not provided [RCV000759953] | Chr19:50416644 [GRCh38] Chr19:50919901 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3121-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001511773]|Hereditary cancer-predisposing syndrome [RCV002323596]|not provided [RCV000589604]|not specified [RCV000433028] | Chr19:50417153 [GRCh38] Chr19:50920410 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.463+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001085251]|Hereditary cancer-predisposing syndrome [RCV002339003]|not provided [RCV000589054]|not specified [RCV000433126] | Chr19:50401933 [GRCh38] Chr19:50905190 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1095T>A (p.Gly365=) | single nucleotide variant | not specified [RCV000433207] | Chr19:50403177 [GRCh38] Chr19:50906434 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1950A>C (p.Ser650=) | single nucleotide variant | not specified [RCV000443808] | Chr19:50409179 [GRCh38] Chr19:50912436 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-31G>A | single nucleotide variant | not specified [RCV000443968] | Chr19:50384361 [GRCh38] Chr19:50887618 [GRCh37] Chr19:19q13.33 |
likely benign |
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 | copy number gain | See cases [RCV000445925] | Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_002691.4(POLD1):c.1495-14G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000663225]|POLD1-related condition [RCV003972606]|not specified [RCV000422758] | Chr19:50406969 [GRCh38] Chr19:50910226 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2244T>C (p.Ser748=) | single nucleotide variant | Carcinoma of colon [RCV001357603]|Colorectal cancer, susceptibility to, 10 [RCV000465977]|Hereditary cancer-predisposing syndrome [RCV000564893]|not provided [RCV000587842]|not specified [RCV000426269] | Chr19:50413515 [GRCh38] Chr19:50916772 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1017G>A (p.Ser339=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001085963]|Hereditary cancer-predisposing syndrome [RCV000574917]|not provided [RCV000759207] | Chr19:50403099 [GRCh38] Chr19:50906356 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2136G>A (p.Pro712=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001080666]|Hereditary cancer-predisposing syndrome [RCV000567831]|not provided [RCV000679490] | Chr19:50409648 [GRCh38] Chr19:50912905 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1776-20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062346]|not specified [RCV000426455] | Chr19:50408765 [GRCh38] Chr19:50912022 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.744C>T (p.Val248=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468101]|Hereditary cancer-predisposing syndrome [RCV000565576]|not specified [RCV000429986] | Chr19:50402359 [GRCh38] Chr19:50905616 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-4G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002521828]|Hereditary cancer-predisposing syndrome [RCV001014020]|not specified [RCV000433448] | Chr19:50409515 [GRCh38] Chr19:50912772 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.-1-4G>C | single nucleotide variant | not specified [RCV000440527] | Chr19:50398847 [GRCh38] Chr19:50902104 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3118G>A (p.Glu1040Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459781]|Hereditary cancer-predisposing syndrome [RCV002323657]|not provided [RCV000444008] | Chr19:50417095 [GRCh38] Chr19:50920352 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.273A>G (p.Thr91=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087640]|Hereditary cancer-predisposing syndrome [RCV002436338]|not provided [RCV000873943]|not specified [RCV000420145] | Chr19:50399441 [GRCh38] Chr19:50902698 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.333G>A (p.Val111=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001464383]|Hereditary cancer-predisposing syndrome [RCV002323651]|not specified [RCV000426524] | Chr19:50401794 [GRCh38] Chr19:50905051 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2322G>C (p.Leu774=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645963]|Hereditary cancer-predisposing syndrome [RCV002450991]|not provided [RCV003409594]|not specified [RCV000430295] | Chr19:50413813 [GRCh38] Chr19:50917070 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+12G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002521688]|not specified [RCV000433530] | Chr19:50399496 [GRCh38] Chr19:50902753 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002059643]|not specified [RCV000440552] | Chr19:50402189 [GRCh38] Chr19:50905446 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2289C>T (p.Phe763=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536168]|Hereditary cancer-predisposing syndrome [RCV000564850]|not provided [RCV001703716] | Chr19:50413780 [GRCh38] Chr19:50917037 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-10A>G | single nucleotide variant | Carcinoma of colon [RCV001354233]|Colorectal cancer, susceptibility to, 10 [RCV001082324]|not provided [RCV000759969]|not specified [RCV000444281] | Chr19:50402602 [GRCh38] Chr19:50905859 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.3198C>T (p.His1066=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086274]|Hereditary cancer-predisposing syndrome [RCV002257681]|not provided [RCV000759954] | Chr19:50417249 [GRCh38] Chr19:50920506 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.522G>A (p.Arg174=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001409035]|Hereditary cancer-predisposing syndrome [RCV000574612]|POLD1-related condition [RCV003922800]|not specified [RCV000444328] | Chr19:50402057 [GRCh38] Chr19:50905314 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.555G>A (p.Pro185=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645931]|Hereditary cancer-predisposing syndrome [RCV002348204]|not specified [RCV000420190] | Chr19:50402090 [GRCh38] Chr19:50905347 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456508]|Hereditary cancer-predisposing syndrome [RCV000564847]|POLD1-related condition [RCV003932649]|not provided [RCV001704356] | Chr19:50402377 [GRCh38] Chr19:50905634 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3067+17A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002062727]|not specified [RCV000423353] | Chr19:50416740 [GRCh38] Chr19:50919997 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.945C>T (p.Phe315=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084634]|Hereditary cancer-predisposing syndrome [RCV000568167]|not provided [RCV000679534]|not specified [RCV000423358] | Chr19:50402716 [GRCh38] Chr19:50905973 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.810T>C (p.Ala270=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001511772]|Hereditary cancer-predisposing syndrome [RCV000572385]|not provided [RCV000587531]|not specified [RCV000433719] | Chr19:50402505 [GRCh38] Chr19:50905762 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2251-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645915]|not provided [RCV001284206] | Chr19:50413733 [GRCh38] Chr19:50916990 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+13G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063403]|not specified [RCV000433902] | Chr19:50417110 [GRCh38] Chr19:50920367 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467905]|Hereditary cancer-predisposing syndrome [RCV000565879]|not provided [RCV000679501]|not specified [RCV002265762] | Chr19:50415720 [GRCh38] Chr19:50918977 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.3219-20G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525907]|not specified [RCV000440840] | Chr19:50417822 [GRCh38] Chr19:50921079 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.666G>A (p.Pro222=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084209]|Hereditary cancer-predisposing syndrome [RCV000561554]|POLD1-related condition [RCV003970152]|not provided [RCV000759249]|not specified [RCV003321593] | Chr19:50402281 [GRCh38] Chr19:50905538 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2676C>T (p.Ser892=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000874873]|Hereditary cancer-predisposing syndrome [RCV000565776]|not specified [RCV000444516] | Chr19:50415549 [GRCh38] Chr19:50918806 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.234C>G (p.Arg78=) | single nucleotide variant | Carcinoma of colon [RCV001354218]|Colorectal cancer, susceptibility to, 10 [RCV001084356]|Hereditary cancer-predisposing syndrome [RCV000567046]|not provided [RCV000590144]|not specified [RCV000444537] | Chr19:50399402 [GRCh38] Chr19:50902659 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.-1-7C>T | single nucleotide variant | not specified [RCV000444566] | Chr19:50398844 [GRCh38] Chr19:50902101 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000524667]|not specified [RCV000423576] | Chr19:50416729 [GRCh38] Chr19:50919986 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1489C>T (p.Leu497=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640895]|Hereditary cancer-predisposing syndrome [RCV002393007]|not specified [RCV000426959] | Chr19:50406512 [GRCh38] Chr19:50909769 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) | single nucleotide variant | Carcinoma of colon [RCV001354613]|Colorectal cancer, susceptibility to, 10 [RCV000459453]|Hereditary cancer-predisposing syndrome [RCV000569706]|not provided [RCV000589154]|not specified [RCV000427134] | Chr19:50407036 [GRCh38] Chr19:50910293 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3121-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528967]|not provided [RCV001284330] | Chr19:50417163 [GRCh38] Chr19:50920420 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-20G>A | single nucleotide variant | not specified [RCV000433913] | Chr19:50415704 [GRCh38] Chr19:50918961 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456248]|POLD1-related condition [RCV003902583]|not specified [RCV000433932] | Chr19:50402751 [GRCh38] Chr19:50906008 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-11T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064997]|not specified [RCV000433983] | Chr19:50416385 [GRCh38] Chr19:50919642 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662453]|not specified [RCV000434065] | Chr19:50415009 [GRCh38] Chr19:50918266 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3093C>T (p.Pro1031=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475182]|Hereditary cancer-predisposing syndrome [RCV000572820]|not provided [RCV001704482] | Chr19:50417070 [GRCh38] Chr19:50920327 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2737G>A (p.Gly913Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458910]|not provided [RCV001547040] | Chr19:50415743 [GRCh38] Chr19:50919000 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2517C>T (p.Leu839=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459052]|Hereditary cancer-predisposing syndrome [RCV002429593] | Chr19:50414943 [GRCh38] Chr19:50918200 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3301C>T (p.Pro1101Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462761]|Hereditary cancer-predisposing syndrome [RCV002323714]|not provided [RCV002264942] | Chr19:50417924 [GRCh38] Chr19:50921181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1702C>T (p.Leu568=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001407741]|Hereditary cancer-predisposing syndrome [RCV000574693]|not specified [RCV000605847] | Chr19:50407342 [GRCh38] Chr19:50910599 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2450G>A (p.Arg817Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466517] | Chr19:50414876 [GRCh38] Chr19:50918133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1400A>G (p.Tyr467Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466531]|Hereditary cancer-predisposing syndrome [RCV002393115]|not provided [RCV001731693] | Chr19:50406423 [GRCh38] Chr19:50909680 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1055G>A (p.Arg352His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466605]|Hereditary cancer-predisposing syndrome [RCV000564680]|not provided [RCV000679471] | Chr19:50403137 [GRCh38] Chr19:50906394 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.631C>T (p.Arg211Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470196]|Hereditary cancer-predisposing syndrome [RCV002365632]|not provided [RCV003332175] | Chr19:50402246 [GRCh38] Chr19:50905503 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1731C>T (p.Gly577=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086800]|Hereditary cancer-predisposing syndrome [RCV000573870]|not provided [RCV000470263]|not specified [RCV002268102] | Chr19:50407371 [GRCh38] Chr19:50910628 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.438C>G (p.Pro146=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084641]|Hereditary cancer-predisposing syndrome [RCV000572247]|not provided [RCV000679517] | Chr19:50401899 [GRCh38] Chr19:50905156 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3168G>A (p.Thr1056=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474037]|Hereditary cancer-predisposing syndrome [RCV000574642] | Chr19:50417219 [GRCh38] Chr19:50920476 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2041C>G (p.Leu681Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474122]|not provided [RCV001764401] | Chr19:50409553 [GRCh38] Chr19:50912810 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2817G>A (p.Ser939=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456490]|Hereditary cancer-predisposing syndrome [RCV000571160] | Chr19:50415823 [GRCh38] Chr19:50919080 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2810T>G (p.Met937Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456552] | Chr19:50415816 [GRCh38] Chr19:50919073 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1514G>A (p.Arg505His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456862]|Hereditary cancer-predisposing syndrome [RCV001011981] | Chr19:50407002 [GRCh38] Chr19:50910259 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.965G>A (p.Arg322His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000538479]|Colorectal cancer, susceptibility to, 10 [RCV002506169]|Hereditary cancer-predisposing syndrome [RCV001019591]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001294004]|not provided [RCV000479115] | Chr19:50402736 [GRCh38] Chr19:50905993 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.607G>A (p.Gly203Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000532071]|not provided [RCV000479316]|not specified [RCV002268121] | Chr19:50402222 [GRCh38] Chr19:50905479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+7_3218+13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000885171]|not specified [RCV000483303] | Chr19:50417273..50417279 [GRCh38] Chr19:50920530..50920536 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2789C>G (p.Ala930Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459174] | Chr19:50415795 [GRCh38] Chr19:50919052 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.328C>T (p.Pro110Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459196]|not provided [RCV000996985]|not specified [RCV002268074] | Chr19:50401789 [GRCh38] Chr19:50905046 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.885_887del (p.Val296del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000462957]|not provided [RCV002305490] | Chr19:50402654..50402656 [GRCh38] Chr19:50905911..50905913 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.649C>G (p.Pro217Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462972]|Hereditary cancer-predisposing syndrome [RCV002356673] | Chr19:50402264 [GRCh38] Chr19:50905521 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.960C>T (p.Ala320=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463028]|Hereditary cancer-predisposing syndrome [RCV001019568]|not provided [RCV001574791] | Chr19:50402731 [GRCh38] Chr19:50905988 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1290C>T (p.Asn430=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001453712]|Hereditary cancer-predisposing syndrome [RCV002383879] | Chr19:50406229 [GRCh38] Chr19:50909486 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3247A>C (p.Lys1083Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466748]|Hereditary cancer-predisposing syndrome [RCV003380574] | Chr19:50417870 [GRCh38] Chr19:50921127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.283A>T (p.Ile95Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470500] | Chr19:50399451 [GRCh38] Chr19:50902708 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.964C>T (p.Arg322Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474306]|Hereditary cancer-predisposing syndrome [RCV000573519]|not provided [RCV003477951] | Chr19:50402735 [GRCh38] Chr19:50905992 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1234A>G (p.Thr412Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460036]|Hereditary cancer-predisposing syndrome [RCV000569155]|not provided [RCV000679475] | Chr19:50403589 [GRCh38] Chr19:50906846 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2820+3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461980]|Hereditary cancer-predisposing syndrome [RCV001016689]|POLD1-related condition [RCV003925319]|not provided [RCV000759228] | Chr19:50415829 [GRCh38] Chr19:50919086 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.801G>T (p.Glu267Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463303] | Chr19:50402496 [GRCh38] Chr19:50905753 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.162G>A (p.Glu54=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463830]|Hereditary cancer-predisposing syndrome [RCV000570652]|POLD1-related condition [RCV003970324]|not specified [RCV002268103] | Chr19:50399013 [GRCh38] Chr19:50902270 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-6del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645949]|not specified [RCV000479539] | Chr19:50399361 [GRCh38] Chr19:50902618 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-24CCCTGC[4] | microsatellite | POLD1-related condition [RCV003925405]|not provided [RCV001704602]|not specified [RCV000483771] | Chr19:50417817..50417818 [GRCh38] Chr19:50921074..50921075 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2717+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063806]|not provided [RCV000679500] | Chr19:50415601 [GRCh38] Chr19:50918858 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1893-6A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645870]|not provided [RCV000483815] | Chr19:50409116 [GRCh38] Chr19:50912373 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.432C>T (p.Phe144=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990247]|Hereditary cancer-predisposing syndrome [RCV000573414]|not provided [RCV000759963] | Chr19:50401893 [GRCh38] Chr19:50905150 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.606C>A (p.His202Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459336]|Hereditary cancer-predisposing syndrome [RCV002356675] | Chr19:50402221 [GRCh38] Chr19:50905478 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.59G>A (p.Gly20Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459378]|Hereditary cancer-predisposing syndrome [RCV002356674]|not provided [RCV001567390] | Chr19:50398910 [GRCh38] Chr19:50902167 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463247]|Hereditary cancer-predisposing syndrome [RCV002451105]|not provided [RCV000759959]|not specified [RCV002248681] | Chr19:50417939 [GRCh38] Chr19:50921196 [GRCh37] Chr19:19q13.33 |
benign|uncertain significance |
NM_002691.4(POLD1):c.1542G>A (p.Lys514=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466979]|Hereditary cancer-predisposing syndrome [RCV001012113] | Chr19:50407030 [GRCh38] Chr19:50910287 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.49C>T (p.Arg17Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467060]|not provided [RCV000679518] | Chr19:50398900 [GRCh38] Chr19:50902157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2937C>G (p.Ala979=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470644]|Hereditary cancer-predisposing syndrome [RCV002436493] | Chr19:50416512 [GRCh38] Chr19:50919769 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3025C>T (p.Arg1009Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470658]|Hereditary cancer-predisposing syndrome [RCV003168794]|not provided [RCV000985931] | Chr19:50416681 [GRCh38] Chr19:50919938 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.872T>C (p.Leu291Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470696]|not provided [RCV001753884] | Chr19:50402643 [GRCh38] Chr19:50905900 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3046C>T (p.Arg1016Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474435]|not provided [RCV003151776] | Chr19:50416702 [GRCh38] Chr19:50919959 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474517]|POLD1-related condition [RCV003925320] | Chr19:50415597 [GRCh38] Chr19:50918854 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.575T>G (p.Leu192Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474576] | Chr19:50402110 [GRCh38] Chr19:50905367 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464011]|Hereditary cancer-predisposing syndrome [RCV001017369]|not provided [RCV001574450]|not specified [RCV001821262] | Chr19:50403196 [GRCh38] Chr19:50906453 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.966C>T (p.Arg322=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464241]|Hereditary cancer-predisposing syndrome [RCV001019613] | Chr19:50402737 [GRCh38] Chr19:50905994 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465461]|not provided [RCV000985941]|not specified [RCV002248682] | Chr19:50402228 [GRCh38] Chr19:50905485 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2959G>T (p.Asp987Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465848]|Hereditary cancer-predisposing syndrome [RCV002436422]|not provided [RCV003231498] | Chr19:50416615 [GRCh38] Chr19:50919872 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2911G>T (p.Glu971Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467986]|Hereditary cancer-predisposing syndrome [RCV001016941]|not specified [RCV000508349] | Chr19:50416486 [GRCh38] Chr19:50919743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468092]|Hereditary cancer-predisposing syndrome [RCV002323712]|not provided [RCV001653826]|not specified [RCV002248680] | Chr19:50417894 [GRCh38] Chr19:50921151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-2+1G>C | single nucleotide variant | not provided [RCV000479825] | Chr19:50384391 [GRCh38] Chr19:50887648 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2083G>A (p.Val695Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645851]|not provided [RCV000483965] | Chr19:50409595 [GRCh38] Chr19:50912852 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.590-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459561]|not provided [RCV001764458] | Chr19:50402199 [GRCh38] Chr19:50905456 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1104G>A (p.Val368=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459601]|Hereditary cancer-predisposing syndrome [RCV000567821]|not provided [RCV001564594] | Chr19:50403186 [GRCh38] Chr19:50906443 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3229C>A (p.Pro1077Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459611] | Chr19:50417852 [GRCh38] Chr19:50921109 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2989G>A (p.Gly997Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463377]|Hereditary cancer-predisposing syndrome [RCV002436421]|not provided [RCV001572071] | Chr19:50416645 [GRCh38] Chr19:50919902 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463446]|Hereditary cancer-predisposing syndrome [RCV000570214]|not provided [RCV001548282]|not specified [RCV001821338] | Chr19:50406992 [GRCh38] Chr19:50910249 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2604C>A (p.Ile868=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001479965]|Hereditary cancer-predisposing syndrome [RCV002429595]|not provided [RCV003236805] | Chr19:50415477 [GRCh38] Chr19:50918734 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2877G>A (p.Glu959=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467311]|Hereditary cancer-predisposing syndrome [RCV002436491] | Chr19:50416452 [GRCh38] Chr19:50919709 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.165G>A (p.Glu55=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467360]|Hereditary cancer-predisposing syndrome [RCV002393194] | Chr19:50399016 [GRCh38] Chr19:50902273 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2773G>A (p.Val925Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467361]|not provided [RCV001571555]|not specified [RCV003321608] | Chr19:50415779 [GRCh38] Chr19:50919036 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2340C>G (p.Asp780Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470834]|Hereditary cancer-predisposing syndrome [RCV002446810] | Chr19:50413831 [GRCh38] Chr19:50917088 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3305del (p.Pro1102fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000470938]|Hereditary cancer-predisposing syndrome [RCV000570884]|not provided [RCV000657258]|not specified [RCV001821261] | Chr19:50417924 [GRCh38] Chr19:50921181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.665C>T (p.Pro222Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470943]|Hereditary cancer-predisposing syndrome [RCV002365630]|not provided [RCV001552706] | Chr19:50402280 [GRCh38] Chr19:50905537 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000474703]|Hereditary cancer-predisposing syndrome [RCV000562891]|not provided [RCV001572009] | Chr19:50414868..50414870 [GRCh38] Chr19:50918125..50918127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.3(POLD1):c.589_589+1del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000474786] | Chr19:50402119..50402120 [GRCh38] Chr19:50905376..50905377 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893-6A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469844]|Hereditary cancer-predisposing syndrome [RCV002257745]|not provided [RCV001696852]|not specified [RCV002465672] | Chr19:50409116 [GRCh38] Chr19:50912373 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3256C>T (p.Arg1086Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470270]|Hereditary cancer-predisposing syndrome [RCV002256265] | Chr19:50417879 [GRCh38] Chr19:50921136 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.311A>T (p.Tyr104Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471804]|not provided [RCV001566790] | Chr19:50399479 [GRCh38] Chr19:50902736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3022C>T (p.Arg1008Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473681]|Hereditary cancer-predisposing syndrome [RCV002436417] | Chr19:50416678 [GRCh38] Chr19:50919935 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990261]|Hereditary cancer-predisposing syndrome [RCV001014612]|not provided [RCV000842057] | Chr19:50413421 [GRCh38] Chr19:50916678 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3062A>C (p.His1021Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473943]|not provided [RCV003325483] | Chr19:50416718 [GRCh38] Chr19:50919975 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.223A>G (p.Ile75Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473956]|Colorectal cancer, susceptibility to, 10 [RCV000765470]|Hereditary cancer-predisposing syndrome [RCV002429503]|not provided [RCV002469154] | Chr19:50399391 [GRCh38] Chr19:50902648 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-14_759-13delinsAT | indel | Colorectal cancer, susceptibility to, 10 [RCV003525914]|not provided [RCV001712449] | Chr19:50402440..50402441 [GRCh38] Chr19:50905697..50905698 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.532G>C (p.Gly178Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541905]|POLD1-related condition [RCV003419805]|not provided [RCV000484189] | Chr19:50402067 [GRCh38] Chr19:50905324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+13_2154+14insA | insertion | Carcinoma of colon [RCV001355631]|Colorectal cancer, susceptibility to, 10 [RCV001512798]|Hereditary cancer-predisposing syndrome [RCV002431399]|not provided [RCV000586118]|not specified [RCV000484350] | Chr19:50409679..50409680 [GRCh38] Chr19:50912936..50912937 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1549T>C (p.Tyr517His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456183]|Hereditary cancer-predisposing syndrome [RCV002402255] | Chr19:50407037 [GRCh38] Chr19:50910294 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456244]|Colorectal cancer, susceptibility to, 10 [RCV003483621]|Hereditary cancer-predisposing syndrome [RCV000571097]|not provided [RCV001090754] | Chr19:50403122 [GRCh38] Chr19:50906379 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.2736C>T (p.Pro912=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459892]|Hereditary cancer-predisposing syndrome [RCV000573363]|not provided [RCV001696806] | Chr19:50415742 [GRCh38] Chr19:50918999 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.103G>A (p.Glu35Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463677]|not provided [RCV000985919] | Chr19:50398954 [GRCh38] Chr19:50902211 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2809A>T (p.Met937Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463794] | Chr19:50415815 [GRCh38] Chr19:50919072 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3059G>A (p.Ser1020Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463799]|Hereditary cancer-predisposing syndrome [RCV000561154]|not provided [RCV002286735] | Chr19:50416715 [GRCh38] Chr19:50919972 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2794G>C (p.Gly932Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467511]|Hereditary cancer-predisposing syndrome [RCV002255391]|not provided [RCV001584153] | Chr19:50415800 [GRCh38] Chr19:50919057 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1276G>A (p.Gly426Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467594]|Hereditary cancer-predisposing syndrome [RCV000563063]|not provided [RCV003313071] | Chr19:50406215 [GRCh38] Chr19:50909472 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1877C>T (p.Thr626Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471126] | Chr19:50408886 [GRCh38] Chr19:50912143 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.85C>T (p.Pro29Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471199]|Hereditary cancer-predisposing syndrome [RCV003168789]|not provided [RCV001551983] | Chr19:50398936 [GRCh38] Chr19:50902193 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1456A>G (p.Lys486Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474880]|Hereditary cancer-predisposing syndrome [RCV001011669] | Chr19:50406479 [GRCh38] Chr19:50909736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.670C>T (p.Arg224Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475033] | Chr19:50402285 [GRCh38] Chr19:50905542 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.541G>T (p.Glu181Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475046] | Chr19:50402076 [GRCh38] Chr19:50905333 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1662G>A (p.Lys554=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001425593]|Hereditary cancer-predisposing syndrome [RCV002402339] | Chr19:50407150 [GRCh38] Chr19:50910407 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1509_1510del (p.Gln503fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000475067] | Chr19:50406996..50406997 [GRCh38] Chr19:50910253..50910254 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.661G>T (p.Ala221Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475918]|Hereditary cancer-predisposing syndrome [RCV002365631]|not provided [RCV000593709] | Chr19:50402276 [GRCh38] Chr19:50905533 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2816C>T (p.Ser939Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001246830]|not provided [RCV000484601] | Chr19:50415822 [GRCh38] Chr19:50919079 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2220A>G (p.Thr740=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460059]|Hereditary cancer-predisposing syndrome [RCV002418458] | Chr19:50413491 [GRCh38] Chr19:50916748 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.37G>A (p.Val13Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460088] | Chr19:50398888 [GRCh38] Chr19:50902145 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+9G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460117] | Chr19:50417106 [GRCh38] Chr19:50920363 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2950C>T (p.Leu984=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460171]|Hereditary cancer-predisposing syndrome [RCV000571458]|not provided [RCV001557648] | Chr19:50416525 [GRCh38] Chr19:50919782 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3218+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460239]|not provided [RCV001284332] | Chr19:50417277 [GRCh38] Chr19:50920534 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2464G>A (p.Asp822Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460276]|Hereditary cancer-predisposing syndrome [RCV002451106] | Chr19:50414890 [GRCh38] Chr19:50918147 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.862G>A (p.Ala288Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000463866]|Hereditary cancer-predisposing syndrome [RCV002374775] | Chr19:50402633 [GRCh38] Chr19:50905890 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1301C>G (p.Ser434Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467756]|Hereditary cancer-predisposing syndrome [RCV001010862] | Chr19:50406240 [GRCh38] Chr19:50909497 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388G>C (p.Lys796Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467790]|not provided [RCV000759945] | Chr19:50413879 [GRCh38] Chr19:50917136 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3015C>T (p.Phe1005=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001081035]|Hereditary cancer-predisposing syndrome [RCV000565399]|POLD1-related condition [RCV003960072]|not provided [RCV000467795] | Chr19:50416671 [GRCh38] Chr19:50919928 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1919C>A (p.Thr640Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467833]|Hereditary cancer-predisposing syndrome [RCV002411453]|not provided [RCV001770329] | Chr19:50409148 [GRCh38] Chr19:50912405 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471361]|Colorectal cancer, susceptibility to, 10 [RCV000765472]|POLD1-related condition [RCV003925321]|not provided [RCV001556112]|not specified [RCV002268077] | Chr19:50399469 [GRCh38] Chr19:50902726 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1170C>T (p.Pro390=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471404]|Hereditary cancer-predisposing syndrome [RCV000572686]|not provided [RCV001721522] | Chr19:50403525 [GRCh38] Chr19:50906782 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2186A>G (p.Glu729Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471418] | Chr19:50413457 [GRCh38] Chr19:50916714 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.923C>T (p.Ala308Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471507] | Chr19:50402694 [GRCh38] Chr19:50905951 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3094C>T (p.Arg1032Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475135]|not provided [RCV001284329]|not specified [RCV002465658] | Chr19:50417071 [GRCh38] Chr19:50920328 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2706G>A (p.Glu902=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475180]|Hereditary cancer-predisposing syndrome [RCV002429594] | Chr19:50415579 [GRCh38] Chr19:50918836 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.233G>A (p.Arg78His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475205]|not provided [RCV002260639] | Chr19:50399401 [GRCh38] Chr19:50902658 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2088C>T (p.Ser696=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475246]|Hereditary cancer-predisposing syndrome [RCV003168897] | Chr19:50409600 [GRCh38] Chr19:50912857 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475292]|Malignant tumor of breast [RCV001355031] | Chr19:50408910 [GRCh38] Chr19:50912167 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.-23C>T | single nucleotide variant | not specified [RCV000480577] | Chr19:50384369 [GRCh38] Chr19:50887626 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000799530]|Hereditary cancer-predisposing syndrome [RCV000562043]|not provided [RCV000480581] | Chr19:50415594 [GRCh38] Chr19:50918851 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000558091]|Familial colorectal cancer [RCV000709591]|Hereditary cancer-predisposing syndrome [RCV003168965]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV003225730]|not provided [RCV000480642] | Chr19:50416643 [GRCh38] Chr19:50919900 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.244C>G (p.Pro82Ala) | single nucleotide variant | not provided [RCV000484817] | Chr19:50399412 [GRCh38] Chr19:50902669 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2612_2623del (p.Leu871_Asn874del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000456614]|Hereditary cancer-predisposing syndrome [RCV002436416]|not provided [RCV003236802] | Chr19:50415482..50415493 [GRCh38] Chr19:50918739..50918750 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456639]|Colorectal cancer, susceptibility to, 10 [RCV000764233]|not provided [RCV001753885] | Chr19:50417921 [GRCh38] Chr19:50921178 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456753]|Hereditary cancer-predisposing syndrome [RCV000679001]|not provided [RCV001584184]|not specified [RCV000506140] | Chr19:50413456 [GRCh38] Chr19:50916713 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1383+9G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456781] | Chr19:50406331 [GRCh38] Chr19:50909588 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3149G>A (p.Arg1050His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456809]|Hereditary cancer-predisposing syndrome [RCV002323713] | Chr19:50417200 [GRCh38] Chr19:50920457 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.297G>A (p.Leu99=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460368]|Hereditary cancer-predisposing syndrome [RCV003298524] | Chr19:50399465 [GRCh38] Chr19:50902722 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.427G>A (p.Gly143Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460392]|not provided [RCV002264941] | Chr19:50401888 [GRCh38] Chr19:50905145 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2333C>T (p.Ala778Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464130]|Hereditary cancer-predisposing syndrome [RCV002455873]|POLD1-related condition [RCV003899971] | Chr19:50413824 [GRCh38] Chr19:50917081 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.973A>G (p.Ile325Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464281]|Hereditary cancer-predisposing syndrome [RCV000565563]|not provided [RCV001547140] | Chr19:50403055 [GRCh38] Chr19:50906312 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464-5_466del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000471600] | Chr19:50401994..50402001 [GRCh38] Chr19:50905251..50905258 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471609]|Hereditary cancer-predisposing syndrome [RCV000567249]|not provided [RCV001653828]|not specified [RCV000781762] | Chr19:50414855 [GRCh38] Chr19:50918112 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2562C>T (p.Asp854=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471727]|Hereditary cancer-predisposing syndrome [RCV000574657]|POLD1-related condition [RCV003942538] | Chr19:50414988 [GRCh38] Chr19:50918245 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.1156C>T (p.Arg386Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471752]|Hereditary cancer-predisposing syndrome [RCV000572607]|not provided [RCV000759213] | Chr19:50403511 [GRCh38] Chr19:50906768 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.481A>T (p.Met161Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000471753]|Hereditary cancer-predisposing syndrome [RCV000679002]|not provided [RCV000759242] | Chr19:50402016 [GRCh38] Chr19:50905273 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.327G>C (p.Gln109His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457445]|Hereditary cancer-predisposing syndrome [RCV000664284]|not provided [RCV000481462] | Chr19:50401788 [GRCh38] Chr19:50905045 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2788G>A (p.Ala930Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458362]|Hereditary cancer-predisposing syndrome [RCV002258907]|not provided [RCV000486248] | Chr19:50415794 [GRCh38] Chr19:50919051 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.742G>A (p.Val248Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458839]|not provided [RCV000478209] | Chr19:50402357 [GRCh38] Chr19:50905614 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1534T>C (p.Cys512Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459140]|not provided [RCV000480503] | Chr19:50407022 [GRCh38] Chr19:50910279 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+6_3120+21del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000459572]|not provided [RCV003320648] | Chr19:50417094..50417109 [GRCh38] Chr19:50920351..50920366 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000459850]|Hereditary cancer-predisposing syndrome [RCV003168793]|POLD1-related condition [RCV003892014]|not provided [RCV000483406]|not specified [RCV003321609] | Chr19:50416672 [GRCh38] Chr19:50919929 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460501]|Hereditary cancer [RCV003492057]|Hereditary cancer-predisposing syndrome [RCV003168791]|not provided [RCV000485401] | Chr19:50399048 [GRCh38] Chr19:50902305 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.-44_-36delinsACACGGCGA | indel | not provided [RCV000480831] | Chr19:50384348..50384356 [GRCh38] Chr19:50887605..50887613 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645878]|Hereditary cancer-predisposing syndrome [RCV001015965]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV003129868]|not provided [RCV000485183] | Chr19:50415435 [GRCh38] Chr19:50918692 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1762G>A (p.Glu588Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000707105]|Hereditary cancer-predisposing syndrome [RCV002413327]|not provided [RCV000759217] | Chr19:50407402 [GRCh38] Chr19:50910659 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000553895]|Colorectal cancer, susceptibility to, 10 [RCV000764232]|Hereditary cancer-predisposing syndrome [RCV003168960]|not provided [RCV000485225] | Chr19:50417218 [GRCh38] Chr19:50920475 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.899C>T (p.Pro300Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456941] | Chr19:50402670 [GRCh38] Chr19:50905927 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2468G>T (p.Arg823Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000456995]|Hereditary cancer-predisposing syndrome [RCV000758171] | Chr19:50414894 [GRCh38] Chr19:50918151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.393C>T (p.Thr131=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457037]|Hereditary cancer-predisposing syndrome [RCV002374845] | Chr19:50401854 [GRCh38] Chr19:50905111 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460512]|Familial colorectal cancer [RCV000709589]|Hereditary cancer-predisposing syndrome [RCV002446809] | Chr19:50414875 [GRCh38] Chr19:50918132 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2664C>G (p.Thr888=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460652]|Hereditary cancer-predisposing syndrome [RCV002429591] | Chr19:50415537 [GRCh38] Chr19:50918794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2838G>A (p.Leu946=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460710]|Hereditary cancer-predisposing syndrome [RCV000570323] | Chr19:50416413 [GRCh38] Chr19:50919670 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2889C>G (p.Ala963=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001416993] | Chr19:50416464 [GRCh38] Chr19:50919721 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000460737]|Hereditary cancer-predisposing syndrome [RCV002436423]|not provided [RCV000985260]|not specified [RCV000506861] | Chr19:50416610 [GRCh38] Chr19:50919867 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3208A>T (p.Ile1070Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464335] | Chr19:50417259 [GRCh38] Chr19:50920516 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3087C>T (p.Cys1029=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001417006]|Hereditary cancer-predisposing syndrome [RCV002323787] | Chr19:50417064 [GRCh38] Chr19:50920321 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1594G>A (p.Ala532Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464450]|Hereditary cancer-predisposing syndrome [RCV000564396]|POLD1-related condition [RCV003970284]|not provided [RCV001311899] | Chr19:50407082 [GRCh38] Chr19:50910339 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1008G>T (p.Gln336His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464467]|Hereditary cancer-predisposing syndrome [RCV001009682] | Chr19:50403090 [GRCh38] Chr19:50906347 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1759A>T (p.Ile587Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468086]|Hereditary cancer-predisposing syndrome [RCV002411458]|not provided [RCV001764405] | Chr19:50407399 [GRCh38] Chr19:50910656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.360C>T (p.Gly120=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001488829] | Chr19:50401821 [GRCh38] Chr19:50905078 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2955G>A (p.Arg985=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468261]|Hereditary cancer-predisposing syndrome [RCV002436494] | Chr19:50416611 [GRCh38] Chr19:50919868 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000472030]|Colorectal cancer, susceptibility to, 10 [RCV000765467]|Hereditary cancer-predisposing syndrome [RCV002255390]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV003133269]|not provided [RCV001591085]|not specified [RCV000507999] | Chr19:50398885 [GRCh38] Chr19:50902142 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.14G>A (p.Arg5Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475642]|not provided [RCV000759935] | Chr19:50398865 [GRCh38] Chr19:50902122 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2122G>A (p.Val708Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475803]|Hereditary cancer-predisposing syndrome [RCV002418377]|not provided [RCV001770331] | Chr19:50409634 [GRCh38] Chr19:50912891 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1294C>T (p.Arg432Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475830]|Hereditary cancer-predisposing syndrome [RCV001010806] | Chr19:50406233 [GRCh38] Chr19:50909490 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-11CTC[2] | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001080807]|Malignant tumor of breast [RCV001356990]|POLD1-related condition [RCV003902646]|not provided [RCV000481761] | Chr19:50406171..50406173 [GRCh38] Chr19:50909428..50909430 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2758G>A (p.Asp920Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465394]|Hereditary cancer-predisposing syndrome [RCV002436418]|not provided [RCV000679503] | Chr19:50415764 [GRCh38] Chr19:50919021 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1607C>T (p.Ala536Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466076]|Hereditary cancer-predisposing syndrome [RCV002402252]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV003133270]|not provided [RCV000486246] | Chr19:50407095 [GRCh38] Chr19:50910352 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466428]|Familial colorectal cancer [RCV000709592]|POLD1-related condition [RCV003960027]|not provided [RCV000486360] | Chr19:50417208 [GRCh38] Chr19:50920465 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2764G>A (p.Val922Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466716]|not provided [RCV000483315] | Chr19:50415770 [GRCh38] Chr19:50919027 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000467535]|Hereditary cancer-predisposing syndrome [RCV002256299]|not specified [RCV000483360] | Chr19:50413528 [GRCh38] Chr19:50916785 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1384-13C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662869]|Hereditary cancer-predisposing syndrome [RCV002257762]|not provided [RCV000481107]|not specified [RCV003493595] | Chr19:50406394 [GRCh38] Chr19:50909651 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2300C>T (p.Ser767Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805603]|Hereditary cancer-predisposing syndrome [RCV002446935]|not provided [RCV000485295] | Chr19:50413791 [GRCh38] Chr19:50917048 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1424A>G (p.Asn475Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001242200]|Hereditary cancer-predisposing syndrome [RCV002395162]|not provided [RCV000485430] | Chr19:50406447 [GRCh38] Chr19:50909704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1868G>A (p.Arg623Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533107]|Hereditary cancer-predisposing syndrome [RCV003168954]|not provided [RCV000485581] | Chr19:50408877 [GRCh38] Chr19:50912134 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.532G>A (p.Gly178Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457177]|not provided [RCV001662426] | Chr19:50402067 [GRCh38] Chr19:50905324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2157C>T (p.Ser719=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990262]|Hereditary cancer-predisposing syndrome [RCV000561069]|POLD1-related condition [RCV003942537]|not provided [RCV001706643]|not specified [RCV002465673] | Chr19:50413428 [GRCh38] Chr19:50916685 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.536G>A (p.Gly179Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464736] | Chr19:50402071 [GRCh38] Chr19:50905328 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.50G>A (p.Arg17Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468373]|not provided [RCV001564421] | Chr19:50398901 [GRCh38] Chr19:50902158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1730GCG[1] (p.Gly578del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000468409] | Chr19:50407369..50407371 [GRCh38] Chr19:50910626..50910628 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2142G>A (p.Leu714=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468448]|Colorectal cancer, susceptibility to, 10 [RCV002481429]|Hereditary cancer-predisposing syndrome [RCV002429502] | Chr19:50409654 [GRCh38] Chr19:50912911 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2224G>A (p.Glu742Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000472122]|not provided [RCV003327402] | Chr19:50413495 [GRCh38] Chr19:50916752 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1174G>A (p.Val392Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000472244]|Hereditary cancer-predisposing syndrome [RCV001010133]|not provided [RCV001764404]|not specified [RCV001821259] | Chr19:50403529 [GRCh38] Chr19:50906786 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2345T>C (p.Val782Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475864] | Chr19:50413836 [GRCh38] Chr19:50917093 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1811C>A (p.Ser604Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475969]|Colorectal cancer, susceptibility to, 10 [RCV002506119] | Chr19:50408820 [GRCh38] Chr19:50912077 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.37G>T (p.Val13Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476071]|Hereditary cancer-predisposing syndrome [RCV003298484] | Chr19:50398888 [GRCh38] Chr19:50902145 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1363G>A (p.Val455Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469418]|Colorectal cancer, susceptibility to, 10 [RCV000764221]|Hereditary cancer-predisposing syndrome [RCV000570540]|not provided [RCV000487202] | Chr19:50406302 [GRCh38] Chr19:50909559 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1937T>A (p.Phe646Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000470061]|Hereditary cancer-predisposing syndrome [RCV002411455]|not provided [RCV000485529] | Chr19:50409166 [GRCh38] Chr19:50912423 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.187G>A (p.Glu63Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000472021]|Inborn genetic diseases [RCV002525562]|not provided [RCV001721498]|not specified [RCV000481133] | Chr19:50399038 [GRCh38] Chr19:50902295 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001084300]|Hereditary cancer-predisposing syndrome [RCV003168898]|Malignant tumor of breast [RCV001355436]|POLD1-related condition [RCV003892017]|not provided [RCV000679499]|not specified [RCV000485458] | Chr19:50415472 [GRCh38] Chr19:50918729 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473390]|Hereditary cancer-predisposing syndrome [RCV002258928]|not provided [RCV000679521] | Chr19:50398906 [GRCh38] Chr19:50902163 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.3067+11del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000662454]|not specified [RCV000478229] | Chr19:50416732 [GRCh38] Chr19:50919989 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1403A>G (p.Lys468Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473697]|Hereditary cancer-predisposing syndrome [RCV000566416]|not provided [RCV000481954] | Chr19:50406426 [GRCh38] Chr19:50909683 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473811]|Colorectal cancer, susceptibility to, 10 [RCV000764228]|not provided [RCV000481683] | Chr19:50414893 [GRCh38] Chr19:50918150 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2066G>A (p.Arg689Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473890]|Colorectal cancer, susceptibility to, 10 [RCV003227753]|not provided [RCV000482767] | Chr19:50409578 [GRCh38] Chr19:50912835 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.2669C>T (p.Ala890Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473913]|Inborn genetic diseases [RCV002525561]|not provided [RCV001704557] | Chr19:50415542 [GRCh38] Chr19:50918799 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1070T>G (p.Leu357Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000474935]|Hereditary cancer-predisposing syndrome [RCV001017202]|not provided [RCV000478750] | Chr19:50403152 [GRCh38] Chr19:50906409 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475795]|Hereditary cancer-predisposing syndrome [RCV000575803]|not provided [RCV000486305]|not specified [RCV001797725] | Chr19:50413884 [GRCh38] Chr19:50917141 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.1465G>A (p.Val489Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000475904]|Hereditary cancer-predisposing syndrome [RCV000569436]|not provided [RCV000481942] | Chr19:50406488 [GRCh38] Chr19:50909745 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476043]|POLD1-related condition [RCV003424018]|not provided [RCV000657102]|not specified [RCV000480181] | Chr19:50408795 [GRCh38] Chr19:50912052 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.931C>T (p.Arg311Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476261]|Hereditary cancer-predisposing syndrome [RCV000573629]|not provided [RCV000484263] | Chr19:50402702 [GRCh38] Chr19:50905959 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476279]|Colorectal cancer, susceptibility to, 10 [RCV000764225]|Hereditary cancer-predisposing syndrome [RCV002256264]|POLD1-related condition [RCV003401471]|not provided [RCV000479873]|not specified [RCV002268073] | Chr19:50409159 [GRCh38] Chr19:50912416 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+3A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003105921]|Hereditary cancer-predisposing syndrome [RCV001009947]|not provided [RCV000481366] | Chr19:50403222 [GRCh38] Chr19:50906479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.367C>T (p.Pro123Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461139]|Colorectal cancer, susceptibility to, 10 [RCV003483620]|Hereditary cancer-predisposing syndrome [RCV002348308]|not provided [RCV001539753] | Chr19:50401828 [GRCh38] Chr19:50905085 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.132G>A (p.Met44Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461195]|not provided [RCV001577011]|not specified [RCV003493578] | Chr19:50398983 [GRCh38] Chr19:50902240 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001499171] | Chr19:50407319 [GRCh38] Chr19:50910576 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2039C>T (p.Pro680Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464867]|Hereditary cancer-predisposing syndrome [RCV003168792]|not provided [RCV001799661] | Chr19:50409551 [GRCh38] Chr19:50912808 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.988G>T (p.Glu330Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000464922] | Chr19:50403070 [GRCh38] Chr19:50906327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2045G>A (p.Arg682Gln) | single nucleotide variant | Carcinoma of colon [RCV001355494]|Colorectal cancer, susceptibility to, 10 [RCV000468664]|Hereditary cancer-predisposing syndrome [RCV002418376]|not provided [RCV001770330] | Chr19:50409557 [GRCh38] Chr19:50912814 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2978C>T (p.Thr993Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476104]|Hereditary cancer-predisposing syndrome [RCV002436420]|not provided [RCV002473014] | Chr19:50416634 [GRCh38] Chr19:50919891 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3073G>A (p.Val1025Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476212]|Hereditary cancer-predisposing syndrome [RCV002319502]|not provided [RCV001662427] | Chr19:50417050 [GRCh38] Chr19:50920307 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1036G>T (p.Glu346Ter) | single nucleotide variant | not provided [RCV000481688] | Chr19:50403118 [GRCh38] Chr19:50906375 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2979_2980insCAGCTCACGGGCAAG (p.Thr993_Val994insGlnLeuThrGlyLys) | insertion | Colorectal cancer, susceptibility to, 10 [RCV001856858]|not provided [RCV000485907] | Chr19:50416634..50416635 [GRCh38] Chr19:50919891..50919892 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2929G>A (p.Gly977Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001342927]|Hereditary cancer-predisposing syndrome [RCV003372726]|not provided [RCV000485983] | Chr19:50416504 [GRCh38] Chr19:50919761 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3203A>G (p.Asp1068Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457667] | Chr19:50417254 [GRCh38] Chr19:50920511 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2450_2462dup (p.His821fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000457683] | Chr19:50414875..50414876 [GRCh38] Chr19:50918132..50918133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2355C>T (p.His785=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001474127]|Hereditary cancer-predisposing syndrome [RCV002446875] | Chr19:50413846 [GRCh38] Chr19:50917103 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1126G>A (p.Asp376Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465151]|Hereditary cancer-predisposing syndrome [RCV002446808] | Chr19:50403208 [GRCh38] Chr19:50906465 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2563C>G (p.Arg855Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465249]|not provided [RCV001284207] | Chr19:50414989 [GRCh38] Chr19:50918246 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468853]|Hereditary cancer-predisposing syndrome [RCV000566624]|not provided [RCV000679470]|not specified [RCV001821258] | Chr19:50403136 [GRCh38] Chr19:50906393 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.9C>T (p.Gly3=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000468925]|Hereditary cancer-predisposing syndrome [RCV002379445] | Chr19:50398860 [GRCh38] Chr19:50902117 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1383+4T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476335]|Hereditary cancer-predisposing syndrome [RCV002379446]|not provided [RCV000985922] | Chr19:50406326 [GRCh38] Chr19:50909583 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2574G>T (p.Glu858Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457858]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV002470859] | Chr19:50415447 [GRCh38] Chr19:50918704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1318C>T (p.Gln440Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000457885] | Chr19:50406257 [GRCh38] Chr19:50909514 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu) | indel | Colorectal cancer, susceptibility to, 10 [RCV000461519]|not provided [RCV001584152]|not specified [RCV000507304] | Chr19:50402669..50402670 [GRCh38] Chr19:50905926..50905927 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3171G>T (p.Gln1057His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461625]|Hereditary cancer-predisposing syndrome [RCV003372719] | Chr19:50417222 [GRCh38] Chr19:50920479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.968A>G (p.Lys323Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461651]|Hereditary cancer-predisposing syndrome [RCV002256266]|not provided [RCV002285332] | Chr19:50402739 [GRCh38] Chr19:50905996 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2364G>C (p.Ser788=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465305]|Hereditary cancer-predisposing syndrome [RCV002455874]|not specified [RCV000601726] | Chr19:50413855 [GRCh38] Chr19:50917112 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.781G>T (p.Val261Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465312]|Hereditary cancer-predisposing syndrome [RCV002411456] | Chr19:50402476 [GRCh38] Chr19:50905733 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1203C>T (p.Phe401=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001465713]|Hereditary cancer-predisposing syndrome [RCV001010310] | Chr19:50403558 [GRCh38] Chr19:50906815 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1786G>C (p.Val596Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469019] | Chr19:50408795 [GRCh38] Chr19:50912052 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1658T>C (p.Val553Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469197]|Hereditary cancer-predisposing syndrome [RCV002402253] | Chr19:50407146 [GRCh38] Chr19:50910403 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.648G>A (p.Leu216=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469205]|Hereditary cancer-predisposing syndrome [RCV002356738] | Chr19:50402263 [GRCh38] Chr19:50905520 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2412_2434del (p.Ser805fs) | deletion | not provided [RCV000482235] | Chr19:50414838..50414860 [GRCh38] Chr19:50918095..50918117 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001088385]|not provided [RCV000486604] | Chr19:50415599 [GRCh38] Chr19:50918856 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.474C>G (p.Pro158=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461849]|Hereditary cancer-predisposing syndrome [RCV002329120] | Chr19:50402009 [GRCh38] Chr19:50905266 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000461884]|Hereditary cancer-predisposing syndrome [RCV000573128] | Chr19:50413741 [GRCh38] Chr19:50916998 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.259C>T (p.Leu87=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001478544]|Hereditary cancer-predisposing syndrome [RCV002436492] | Chr19:50399427 [GRCh38] Chr19:50902684 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469332]|Hereditary cancer-predisposing syndrome [RCV000571334]|POLD1-related condition [RCV003942480]|not provided [RCV001712561] | Chr19:50402607 [GRCh38] Chr19:50905864 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.203-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473012] | Chr19:50399365 [GRCh38] Chr19:50902622 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.104A>T (p.Glu35Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000476945]|Hereditary cancer-predisposing syndrome [RCV002402254]|not provided [RCV001764403] | Chr19:50398955 [GRCh38] Chr19:50902212 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-12dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002063787]|not specified [RCV000478150] | Chr19:50406169..50406170 [GRCh38] Chr19:50909426..50909427 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+16_2250+37del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002063760]|not specified [RCV000478230] | Chr19:50413532..50413553 [GRCh38] Chr19:50916789..50916810 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1135C>T (p.Gln379Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700497]|not provided [RCV000482514] | Chr19:50403217 [GRCh38] Chr19:50906474 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2338G>T (p.Asp780Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807773]|Hereditary cancer-predisposing syndrome [RCV002446932]|not provided [RCV000486951] | Chr19:50413829 [GRCh38] Chr19:50917086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3221G>A (p.Arg1074Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530844]|not provided [RCV000486966]|not specified [RCV002465687] | Chr19:50417844 [GRCh38] Chr19:50921101 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1077C>T (p.Pro359=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458255]|Hereditary cancer-predisposing syndrome [RCV001009857] | Chr19:50403159 [GRCh38] Chr19:50906416 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954G>A (p.Arg985Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458259]|Hereditary cancer-predisposing syndrome [RCV002436419]|not provided [RCV001358205] | Chr19:50416610 [GRCh38] Chr19:50919867 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1783G>A (p.Asp595Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458283]|Hereditary cancer-predisposing syndrome [RCV002402251] | Chr19:50408792 [GRCh38] Chr19:50912049 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.343C>T (p.Pro115Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462043]|Colorectal cancer, susceptibility to, 10 [RCV000764210] | Chr19:50401804 [GRCh38] Chr19:50905061 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465794]|not specified [RCV002268075] | Chr19:50415809 [GRCh38] Chr19:50919066 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1611G>A (p.Arg537=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086931]|Hereditary cancer-predisposing syndrome [RCV000571990]|not provided [RCV000828436] | Chr19:50407099 [GRCh38] Chr19:50910356 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465945]|Hereditary cancer-predisposing syndrome [RCV003168787]|not provided [RCV000759214]|not specified [RCV000608483] | Chr19:50407336 [GRCh38] Chr19:50910593 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3232A>G (p.Ile1078Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000465976] | Chr19:50417855 [GRCh38] Chr19:50921112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser) | single nucleotide variant | Carcinoma of colon [RCV001355720]|Colorectal cancer, susceptibility to, 10 [RCV000469567]|Hereditary cancer-predisposing syndrome [RCV003168790]|POLD1-related condition [RCV003892013]|not provided [RCV000679509] | Chr19:50417187 [GRCh38] Chr19:50920444 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.723C>T (p.Phe241=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469576]|Hereditary cancer-predisposing syndrome [RCV000572310]|not provided [RCV001696807] | Chr19:50402338 [GRCh38] Chr19:50905595 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2274C>T (p.Ser758=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473310]|Hereditary cancer-predisposing syndrome [RCV000572667]|not provided [RCV001568966] | Chr19:50413765 [GRCh38] Chr19:50917022 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-15_1495-14delinsGA | indel | Colorectal cancer, susceptibility to, 10 [RCV002056757]|not provided [RCV000679477] | Chr19:50406968..50406969 [GRCh38] Chr19:50910225..50910226 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2954-11_2954-9del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV002063815]|not specified [RCV000478340] | Chr19:50416595..50416597 [GRCh38] Chr19:50919852..50919854 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2292C>T (p.Gly764=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000556801]|Hereditary cancer-predisposing syndrome [RCV002446941]|not provided [RCV000478379] | Chr19:50413783 [GRCh38] Chr19:50917040 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2717+15G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001309720]|not provided [RCV000478408] | Chr19:50415605 [GRCh38] Chr19:50918862 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2309_2310del (p.Glu770fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000801743]|not provided [RCV000478497] | Chr19:50413799..50413800 [GRCh38] Chr19:50917056..50917057 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1873G>A (p.Gly625Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458497]|Hereditary cancer-predisposing syndrome [RCV002411457]|not provided [RCV001653827] | Chr19:50408882 [GRCh38] Chr19:50912139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3048C>T (p.Arg1016=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458516]|Hereditary cancer-predisposing syndrome [RCV000563133]|not provided [RCV001704573] | Chr19:50416704 [GRCh38] Chr19:50919961 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462242] | Chr19:50416535 [GRCh38] Chr19:50919792 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.257C>T (p.Ala86Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462279]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001535482]|not provided [RCV000759952]|not specified [RCV001821260] | Chr19:50399425 [GRCh38] Chr19:50902682 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462290]|Colorectal cancer, susceptibility to, 10 [RCV000764219]|Hereditary cancer-predisposing syndrome [RCV001010805]|not provided [RCV003441871] | Chr19:50406233 [GRCh38] Chr19:50909490 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1745C>T (p.Thr582Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462303]|not provided [RCV000519617] | Chr19:50407385 [GRCh38] Chr19:50910642 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.219A>C (p.Ser73=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001473651]|Hereditary cancer-predisposing syndrome [RCV002429592] | Chr19:50399387 [GRCh38] Chr19:50902644 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.992G>A (p.Arg331Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462405]|Hereditary cancer-predisposing syndrome [RCV000567863]|not provided [RCV001574865] | Chr19:50403074 [GRCh38] Chr19:50906331 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2736C>G (p.Pro912=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001398785] | Chr19:50415742 [GRCh38] Chr19:50918999 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.511G>T (p.Ala171Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469796]|Familial colorectal cancer [RCV001535579]|Hereditary cancer-predisposing syndrome [RCV003168788]|not specified [RCV001375536] | Chr19:50402046 [GRCh38] Chr19:50905303 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance|not provided |
NM_002691.4(POLD1):c.2685C>T (p.Ala895=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469820]|Hereditary cancer-predisposing syndrome [RCV002256298]|not provided [RCV001578077] | Chr19:50415558 [GRCh38] Chr19:50918815 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.373C>G (p.Leu125Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469855] | Chr19:50401834 [GRCh38] Chr19:50905091 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473508]|Colorectal cancer, susceptibility to, 10 [RCV000764229]|Hereditary cancer-predisposing syndrome [RCV000566422]|not provided [RCV000657755] | Chr19:50414989 [GRCh38] Chr19:50918246 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+10_840+19del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000473523] | Chr19:50402539..50402548 [GRCh38] Chr19:50905796..50905805 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-4G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000477274]|Hereditary cancer-predisposing syndrome [RCV000561603]|not provided [RCV000603918] | Chr19:50413738 [GRCh38] Chr19:50916995 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1818G>C (p.Leu606=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001394875] | Chr19:50408827 [GRCh38] Chr19:50912084 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.447C>T (p.Tyr149=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082761]|Hereditary cancer-predisposing syndrome [RCV000565066]|not provided [RCV000477325]|not specified [RCV000611085] | Chr19:50401908 [GRCh38] Chr19:50905165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2143G>A (p.Glu715Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000552458]|not provided [RCV000483003] | Chr19:50409655 [GRCh38] Chr19:50912912 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1552C>A (p.Leu518Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528834]|Hereditary cancer-predisposing syndrome [RCV000566097]|not provided [RCV000657132]|not specified [RCV000483221] | Chr19:50407040 [GRCh38] Chr19:50910297 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.485G>T (p.Gly162Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458632] | Chr19:50402020 [GRCh38] Chr19:50905277 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458658]|POLD1-related condition [RCV003925355]|not provided [RCV001704574]|not specified [RCV003330707] | Chr19:50415429 [GRCh38] Chr19:50918686 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1799C>T (p.Thr600Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458767]|Hereditary cancer-predisposing syndrome [RCV002411454] | Chr19:50408808 [GRCh38] Chr19:50912065 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893-7A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000458806]|POLD1-related condition [RCV003899970]|not provided [RCV003333988] | Chr19:50409115 [GRCh38] Chr19:50912372 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2579C>T (p.Ala860Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000462547] | Chr19:50415452 [GRCh38] Chr19:50918709 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.332T>C (p.Val111Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466271] | Chr19:50401793 [GRCh38] Chr19:50905050 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1560G>A (p.Leu520=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001088017]|Hereditary cancer-predisposing syndrome [RCV000571164]|not provided [RCV000679478] | Chr19:50407048 [GRCh38] Chr19:50910305 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3129T>C (p.His1043=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000466419]|Hereditary cancer-predisposing syndrome [RCV002323788]|not specified [RCV003230512] | Chr19:50417180 [GRCh38] Chr19:50920437 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1593C>T (p.Asn531=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000469960]|Hereditary cancer-predisposing syndrome [RCV000569427]|not specified [RCV000600007] | Chr19:50407081 [GRCh38] Chr19:50910338 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.9:g.(?_50902108)_(50902741_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000470049] | Chr19:50398851..50399484 [GRCh38] Chr19:50902108..50902741 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2188A>C (p.Lys730Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473708]|Hereditary cancer-predisposing syndrome [RCV003168795]|not provided [RCV003105912] | Chr19:50413459 [GRCh38] Chr19:50916716 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3264C>T (p.Asp1088=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001503149] | Chr19:50417887 [GRCh38] Chr19:50921144 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.932G>A (p.Arg311His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473738]|Hereditary cancer-predisposing syndrome [RCV000563901]|not provided [RCV002510897] | Chr19:50402703 [GRCh38] Chr19:50905960 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464G>C (p.Gly155Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473753]|Hereditary cancer-predisposing syndrome [RCV002339152]|not provided [RCV001568519]|not specified [RCV002268076] | Chr19:50401999 [GRCh38] Chr19:50905256 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.559G>A (p.Val187Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000473759]|not provided [RCV001764402] | Chr19:50402094 [GRCh38] Chr19:50905351 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.823C>T (p.Leu275=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001452841]|Hereditary cancer-predisposing syndrome [RCV000568575] | Chr19:50402518 [GRCh38] Chr19:50905775 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.649_666dup (p.Pro217_Pro222dup) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000458081]|Hereditary cancer-predisposing syndrome [RCV000563948] | Chr19:50402262..50402263 [GRCh38] Chr19:50905519..50905520 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1049_1070dup (p.Arg358fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000474265] | Chr19:50403126..50403127 [GRCh38] Chr19:50906383..50906384 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2372G>A (p.Arg791Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690840]|Hereditary cancer-predisposing syndrome [RCV002455971]|not specified [RCV000499456] | Chr19:50413863 [GRCh38] Chr19:50917120 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2065C>T (p.Arg689Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000811136]|not specified [RCV000508494] | Chr19:50409577 [GRCh38] Chr19:50912834 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000961669]|Hereditary cancer-predisposing syndrome [RCV002446984]|not provided [RCV001810984]|not specified [RCV000505945] | Chr19:50417278 [GRCh38] Chr19:50920535 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1195C>T (p.Gln399Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002527342]|not specified [RCV000506025] | Chr19:50403550 [GRCh38] Chr19:50906807 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645879]|not specified [RCV000506079] | Chr19:50403487 [GRCh38] Chr19:50906744 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1719G>C (p.Val573=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000937579]|Hereditary cancer-predisposing syndrome [RCV002413388]|not specified [RCV000506189] | Chr19:50407359 [GRCh38] Chr19:50910616 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000817839]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001197723]|not specified [RCV000506359] | Chr19:50415496 [GRCh38] Chr19:50918753 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1539_1548delinsAAAGGATGCT (p.Leu513_Ala516=) | indel | not specified [RCV000506396] | Chr19:50407027..50407036 [GRCh38] Chr19:50910284..50910293 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1691T>G (p.Met564Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000544407]|Hereditary cancer-predisposing syndrome [RCV002413387]|not provided [RCV001755752]|not specified [RCV000506717] | Chr19:50407331 [GRCh38] Chr19:50910588 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1340A>G (p.Lys447Arg) | single nucleotide variant | not specified [RCV000506981] | Chr19:50406279 [GRCh38] Chr19:50909536 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000542408]|Hereditary cancer-predisposing syndrome [RCV000575217]|not specified [RCV000507137] | Chr19:50398974..50398985 [GRCh38] Chr19:50902231..50902242 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1389G>C (p.Leu463=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001467310]|Hereditary cancer-predisposing syndrome [RCV003159644]|not specified [RCV000507263] | Chr19:50406412 [GRCh38] Chr19:50909669 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2829G>A (p.Leu943=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001492468]|Hereditary cancer-predisposing syndrome [RCV000565027]|not specified [RCV000507320] | Chr19:50416404 [GRCh38] Chr19:50919661 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1065C>A (p.Leu355=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539667]|not specified [RCV000507703] | Chr19:50403147 [GRCh38] Chr19:50906404 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.632G>A (p.Arg211His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000558072]|not provided [RCV000985261]|not specified [RCV000507707] | Chr19:50402247 [GRCh38] Chr19:50905504 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2463C>A (p.His821Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698023]|Hereditary cancer-predisposing syndrome [RCV002458265] | Chr19:50414889 [GRCh38] Chr19:50918146 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2951T>C (p.Leu984Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698223]|Hereditary cancer-predisposing syndrome [RCV002440493] | Chr19:50416526 [GRCh38] Chr19:50919783 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2458G>T (p.Ala820Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000559339]|Hereditary cancer-predisposing syndrome [RCV002448731] | Chr19:50414884 [GRCh38] Chr19:50918141 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.835_837del (p.Glu279del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645839]|Hereditary cancer-predisposing syndrome [RCV000562268]|POLD1-related condition [RCV003892024]|not provided [RCV000679528]|not specified [RCV002469204] | Chr19:50402528..50402530 [GRCh38] Chr19:50905785..50905787 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-4G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000872319]|Hereditary cancer-predisposing syndrome [RCV000568832] | Chr19:50409515 [GRCh38] Chr19:50912772 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1051C>T (p.Leu351=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000931765]|Hereditary cancer-predisposing syndrome [RCV000574987] | Chr19:50403133 [GRCh38] Chr19:50906390 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2916del (p.Ile973fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000575260] | Chr19:50416489 [GRCh38] Chr19:50919746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1792A>G (p.Ile598Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000524782] | Chr19:50408801 [GRCh38] Chr19:50912058 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.143A>C (p.His48Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000524966] | Chr19:50398994 [GRCh38] Chr19:50902251 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.342G>T (p.Gly114=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000872684]|Hereditary cancer-predisposing syndrome [RCV000575319] | Chr19:50401803 [GRCh38] Chr19:50905060 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1232A>G (p.Gln411Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301327] | Chr19:50403587 [GRCh38] Chr19:50906844 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1844A>T (p.Asn615Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301328] | Chr19:50408853 [GRCh38] Chr19:50912110 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1332G>A (p.Arg444=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641078]|Hereditary cancer-predisposing syndrome [RCV003301333] | Chr19:50406271 [GRCh38] Chr19:50909528 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1073G>C (p.Arg358Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301334] | Chr19:50403155 [GRCh38] Chr19:50906412 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.457C>G (p.Pro153Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301336] | Chr19:50401918 [GRCh38] Chr19:50905175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1987C>G (p.Leu663Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301340] | Chr19:50409216 [GRCh38] Chr19:50912473 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.534G>A (p.Gly178=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001438638]|Hereditary cancer-predisposing syndrome [RCV000570165]|not provided [RCV003409846] | Chr19:50402069 [GRCh38] Chr19:50905326 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3288G>T (p.Leu1096=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003767187]|Hereditary cancer-predisposing syndrome [RCV000572954]|not provided [RCV003424155] | Chr19:50417911 [GRCh38] Chr19:50921168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3308G>A (p.Gly1103Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525288]|Inborn genetic diseases [RCV002528416]|not provided [RCV001770454] | Chr19:50417931 [GRCh38] Chr19:50921188 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3295T>C (p.Phe1099Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000526635] | Chr19:50417918 [GRCh38] Chr19:50921175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.729C>T (p.Pro243=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575575] | Chr19:50402344 [GRCh38] Chr19:50905601 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000526992] | Chr19:50399365 [GRCh38] Chr19:50902622 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2424C>T (p.Arg808=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001436799]|Hereditary cancer-predisposing syndrome [RCV000575758] | Chr19:50414850 [GRCh38] Chr19:50918107 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1299C>T (p.Asp433=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001394529]|Hereditary cancer-predisposing syndrome [RCV000575818] | Chr19:50406238 [GRCh38] Chr19:50909495 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1029C>G (p.Arg343=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001325854]|Hereditary cancer-predisposing syndrome [RCV000575827] | Chr19:50403111 [GRCh38] Chr19:50906368 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.953A>G (p.Glu318Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640914]|Hereditary cancer-predisposing syndrome [RCV000575902] | Chr19:50402724 [GRCh38] Chr19:50905981 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1155C>A (p.Ile385=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645921]|Hereditary cancer-predisposing syndrome [RCV000570533] | Chr19:50403510 [GRCh38] Chr19:50906767 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.291A>G (p.Gln97=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001052907]|Hereditary cancer-predisposing syndrome [RCV000570642] | Chr19:50399459 [GRCh38] Chr19:50902716 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2433C>T (p.Gly811=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000529417]|Hereditary cancer-predisposing syndrome [RCV002456167]|POLD1-related condition [RCV003900195]|not provided [RCV001722500] | Chr19:50414859 [GRCh38] Chr19:50918116 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2206G>A (p.Glu736Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530059]|Hereditary cancer-predisposing syndrome [RCV002431646] | Chr19:50413477 [GRCh38] Chr19:50916734 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.753G>A (p.Glu251=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002060489]|Hereditary cancer-predisposing syndrome [RCV000576042] | Chr19:50402368 [GRCh38] Chr19:50905625 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645834]|Colorectal cancer, susceptibility to, 10 [RCV000764218]|Hereditary cancer-predisposing syndrome [RCV000576076]|not provided [RCV001591338]|not specified [RCV003317289] | Chr19:50406230 [GRCh38] Chr19:50909487 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2149T>G (p.Ser717Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296039] | Chr19:50409661 [GRCh38] Chr19:50912918 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.848A>G (p.Gln283Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296040] | Chr19:50402619 [GRCh38] Chr19:50905876 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.322G>A (p.Ala108Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296041] | Chr19:50401783 [GRCh38] Chr19:50905040 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2478C>T (p.Cys826=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645778] | Chr19:50414904 [GRCh38] Chr19:50918161 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3010G>A (p.Ala1004Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645785]|Hereditary cancer-predisposing syndrome [RCV002440315]|POLD1-related condition [RCV003945633] | Chr19:50416666 [GRCh38] Chr19:50919923 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2342G>T (p.Trp781Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645790]|not provided [RCV002473089] | Chr19:50413833 [GRCh38] Chr19:50917090 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3265C>G (p.Leu1089Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645791] | Chr19:50417888 [GRCh38] Chr19:50921145 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2969G>A (p.Arg990His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645792]|Hereditary cancer-predisposing syndrome [RCV002440316]|POLD1-related condition [RCV003403491] | Chr19:50416625 [GRCh38] Chr19:50919882 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2959dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000645793]|Colorectal cancer, susceptibility to, 10 [RCV002507105]|Hereditary cancer-predisposing syndrome [RCV002440317]|not provided [RCV001766387] | Chr19:50416608..50416609 [GRCh38] Chr19:50919865..50919866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2888C>T (p.Ala963Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645794]|Hereditary cancer-predisposing syndrome [RCV002440318] | Chr19:50416463 [GRCh38] Chr19:50919720 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1031G>C (p.Trp344Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645802] | Chr19:50403113 [GRCh38] Chr19:50906370 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1886A>T (p.Lys629Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645806]|Hereditary cancer-predisposing syndrome [RCV002406414] | Chr19:50408895 [GRCh38] Chr19:50912152 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.845C>T (p.Thr282Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645807]|not provided [RCV001576524] | Chr19:50402616 [GRCh38] Chr19:50905873 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645808]|Colorectal cancer, susceptibility to, 10 [RCV002507106]|POLD1-related condition [RCV003424225]|not provided [RCV000759221] | Chr19:50409147 [GRCh38] Chr19:50912404 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2590G>A (p.Ala864Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645774] | Chr19:50415463 [GRCh38] Chr19:50918720 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2338G>A (p.Asp780Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645773]|Hereditary cancer-predisposing syndrome [RCV002449047]|not provided [RCV001556927] | Chr19:50413829 [GRCh38] Chr19:50917086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2009C>T (p.Ala670Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645772] | Chr19:50409521 [GRCh38] Chr19:50912778 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1429G>A (p.Val477Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645770]|Hereditary cancer-predisposing syndrome [RCV001011537]|not provided [RCV002260654] | Chr19:50406452 [GRCh38] Chr19:50909709 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3182G>T (p.Cys1061Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645769] | Chr19:50417233 [GRCh38] Chr19:50920490 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-10C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645768] | Chr19:50417162 [GRCh38] Chr19:50920419 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2363C>T (p.Ser788Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645767] | Chr19:50413854 [GRCh38] Chr19:50917111 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1317G>T (p.Lys439Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645810]|Hereditary cancer-predisposing syndrome [RCV001010957] | Chr19:50406256 [GRCh38] Chr19:50909513 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2900T>G (p.Leu967Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645811]|not provided [RCV001809712] | Chr19:50416475 [GRCh38] Chr19:50919732 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3148C>T (p.Arg1050Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645812]|Hereditary cancer-predisposing syndrome [RCV002325271]|not provided [RCV001799693] | Chr19:50417199 [GRCh38] Chr19:50920456 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530245]|Hereditary cancer-predisposing syndrome [RCV002438442] | Chr19:50416529 [GRCh38] Chr19:50919786 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1640T>C (p.Leu547Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530432] | Chr19:50407128 [GRCh38] Chr19:50910385 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3242T>A (p.Met1081Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530654]|Hereditary cancer-predisposing syndrome [RCV003159859] | Chr19:50417865 [GRCh38] Chr19:50921122 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.75del (p.Asp25fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000530710] | Chr19:50398926 [GRCh38] Chr19:50902183 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.991C>T (p.Arg331Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531277]|Hereditary cancer-predisposing syndrome [RCV002384183]|not provided [RCV000759254] | Chr19:50403073 [GRCh38] Chr19:50906330 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1097C>G (p.Ala366Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645815]|Hereditary cancer-predisposing syndrome [RCV001017275] | Chr19:50403179 [GRCh38] Chr19:50906436 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.532G>T (p.Gly178Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645816]|Hereditary cancer-predisposing syndrome [RCV002343318] | Chr19:50402067 [GRCh38] Chr19:50905324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2718G>T (p.Arg906Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645826] | Chr19:50415724 [GRCh38] Chr19:50918981 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.449C>T (p.Thr150Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645833] | Chr19:50401910 [GRCh38] Chr19:50905167 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2294T>G (p.Val765Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645835] | Chr19:50413785 [GRCh38] Chr19:50917042 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.457C>T (p.Pro153Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645836] | Chr19:50401918 [GRCh38] Chr19:50905175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3205G>A (p.Val1069Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645843]|not provided [RCV001756077] | Chr19:50417256 [GRCh38] Chr19:50920513 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1273G>T (p.Ala425Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645844]|Hereditary cancer-predisposing syndrome [RCV001010689] | Chr19:50406212 [GRCh38] Chr19:50909469 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645852]|Colorectal cancer, susceptibility to, 10 [RCV001535618]|not provided [RCV001584488]|not specified [RCV003321704] | Chr19:50402238 [GRCh38] Chr19:50905495 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.970+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645853]|Hereditary cancer-predisposing syndrome [RCV002369713] | Chr19:50402742 [GRCh38] Chr19:50905999 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2231G>A (p.Gly744Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645855]|Hereditary cancer-predisposing syndrome [RCV002424479]|POLD1-related condition [RCV003953158]|not provided [RCV003320717] | Chr19:50413502 [GRCh38] Chr19:50916759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1932C>A (p.Asp644Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645856] | Chr19:50409161 [GRCh38] Chr19:50912418 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.16C>T (p.Arg6Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645857] | Chr19:50398867 [GRCh38] Chr19:50902124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3243_3245delinsTGT (p.Met1081_Arg1082delinsIleVal) | indel | Colorectal cancer, susceptibility to, 10 [RCV000645858] | Chr19:50417866..50417868 [GRCh38] Chr19:50921123..50921125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202G>A (p.Gly68Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645859]|not provided [RCV003148816]|not specified [RCV001816603] | Chr19:50399053 [GRCh38] Chr19:50902310 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2813A>G (p.Lys938Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645862] | Chr19:50415819 [GRCh38] Chr19:50919076 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.50G>T (p.Arg17Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645865] | Chr19:50398901 [GRCh38] Chr19:50902158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2098G>A (p.Val700Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645872] | Chr19:50409610 [GRCh38] Chr19:50912867 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3097G>T (p.Glu1033Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645873] | Chr19:50417074 [GRCh38] Chr19:50920331 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2667C>T (p.Arg889=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645874]|Hereditary cancer-predisposing syndrome [RCV002424480]|not provided [RCV001547809]|not specified [RCV002265836] | Chr19:50415540 [GRCh38] Chr19:50918797 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.590G>A (p.Ser197Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645875]|Hereditary cancer-predisposing syndrome [RCV002358840]|not provided [RCV003159146] | Chr19:50402205 [GRCh38] Chr19:50905462 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1297G>A (p.Asp433Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645876]|Hereditary cancer-predisposing syndrome [RCV003372786] | Chr19:50406236 [GRCh38] Chr19:50909493 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.395A>G (p.Asp132Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645877] | Chr19:50401856 [GRCh38] Chr19:50905113 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1543G>A (p.Asp515Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645886] | Chr19:50407031 [GRCh38] Chr19:50910288 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.658G>A (p.Val220Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645887]|Hereditary cancer-predisposing syndrome [RCV002360598]|not provided [RCV001564212] | Chr19:50402273 [GRCh38] Chr19:50905530 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.589A>C (p.Ser197Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645888]|Familial colorectal cancer [RCV000757928] | Chr19:50402124 [GRCh38] Chr19:50905381 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2668G>A (p.Ala890Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645889]|Hereditary cancer-predisposing syndrome [RCV003162932] | Chr19:50415541 [GRCh38] Chr19:50918798 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2429C>A (p.Ala810Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645890] | Chr19:50414855 [GRCh38] Chr19:50918112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1491G>A (p.Leu497=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645893]|Hereditary cancer-predisposing syndrome [RCV002388106] | Chr19:50406514 [GRCh38] Chr19:50909771 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645894] | Chr19:50417105 [GRCh38] Chr19:50920362 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3045C>T (p.Cys1015=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645900]|Hereditary cancer-predisposing syndrome [RCV002449048] | Chr19:50416701 [GRCh38] Chr19:50919958 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.705C>G (p.Gly235=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645901] | Chr19:50402320 [GRCh38] Chr19:50905577 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+10T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001078857]|not provided [RCV000759968] | Chr19:50402545 [GRCh38] Chr19:50905802 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.456G>A (p.Ala152=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645903]|Hereditary cancer-predisposing syndrome [RCV002334152] | Chr19:50401917 [GRCh38] Chr19:50905174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.858G>A (p.Leu286=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001417055]|Hereditary cancer-predisposing syndrome [RCV002449049] | Chr19:50402629 [GRCh38] Chr19:50905886 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+8T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001487087] | Chr19:50399061 [GRCh38] Chr19:50902318 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+7T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645908]|Hereditary cancer-predisposing syndrome [RCV002256441] | Chr19:50408908 [GRCh38] Chr19:50912165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.216A>C (p.Pro72=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645909] | Chr19:50399384 [GRCh38] Chr19:50902641 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001463525] | Chr19:50417835 [GRCh38] Chr19:50921092 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.393C>G (p.Thr131=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645912] | Chr19:50401854 [GRCh38] Chr19:50905111 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1986C>T (p.Asn662=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001400629]|Hereditary cancer-predisposing syndrome [RCV002422342] | Chr19:50409215 [GRCh38] Chr19:50912472 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.93A>G (p.Pro31=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645917]|Hereditary cancer-predisposing syndrome [RCV002369714] | Chr19:50398944 [GRCh38] Chr19:50902201 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-4G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001405547] | Chr19:50403049 [GRCh38] Chr19:50906306 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1608G>C (p.Ala536=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001489658] | Chr19:50407096 [GRCh38] Chr19:50910353 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645920] | Chr19:50406330 [GRCh38] Chr19:50909587 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+6del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645925] | Chr19:50407420 [GRCh38] Chr19:50910677 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.900G>T (p.Pro300=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001393128]|Hereditary cancer-predisposing syndrome [RCV002369716] | Chr19:50402671 [GRCh38] Chr19:50905928 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2712C>G (p.Ala904=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645930]|not provided [RCV001284208] | Chr19:50415585 [GRCh38] Chr19:50918842 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2283C>T (p.Cys761=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645934]|Hereditary cancer-predisposing syndrome [RCV002449050] | Chr19:50413774 [GRCh38] Chr19:50917031 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2527C>T (p.Leu843=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001475074]|Hereditary cancer-predisposing syndrome [RCV002424482] | Chr19:50414953 [GRCh38] Chr19:50918210 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645938] | Chr19:50409676 [GRCh38] Chr19:50912933 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645940] | Chr19:50408776 [GRCh38] Chr19:50912033 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2010C>G (p.Ala670=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645944]|Hereditary cancer-predisposing syndrome [RCV002422343]|not specified [RCV002268232] | Chr19:50409522 [GRCh38] Chr19:50912779 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1920C>A (p.Thr640=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001471959]|Hereditary cancer-predisposing syndrome [RCV002406417] | Chr19:50409149 [GRCh38] Chr19:50912406 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1573C>A (p.Arg525=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645951]|Hereditary cancer-predisposing syndrome [RCV002397257] | Chr19:50407061 [GRCh38] Chr19:50910318 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2100A>T (p.Val700=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645952]|Hereditary cancer-predisposing syndrome [RCV002422344] | Chr19:50409612 [GRCh38] Chr19:50912869 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645953] | Chr19:50417042 [GRCh38] Chr19:50920299 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645954] | Chr19:50407177 [GRCh38] Chr19:50910434 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2064A>G (p.Gly688=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645964] | Chr19:50409576 [GRCh38] Chr19:50912833 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243G>A (p.Val415Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531972]|Hereditary cancer-predisposing syndrome [RCV002384178] | Chr19:50406182 [GRCh38] Chr19:50909439 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3170A>G (p.Gln1057Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000532197]|Hereditary cancer-predisposing syndrome [RCV002324002]|not provided [RCV001764579] | Chr19:50417221 [GRCh38] Chr19:50920478 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2389-9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001082375]|Hereditary cancer-predisposing syndrome [RCV002258958]|POLD1-related condition [RCV003905413]|not provided [RCV000759946] | Chr19:50414806 [GRCh38] Chr19:50918063 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.105GGA[1] (p.Glu36del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000532928]|Hereditary cancer-predisposing syndrome [RCV002420473] | Chr19:50398954..50398956 [GRCh38] Chr19:50902211..50902213 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002066508]|not specified [RCV000599791] | Chr19:50402552 [GRCh38] Chr19:50905809 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1717G>T (p.Val573Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000534400]|Colorectal cancer, susceptibility to, 10 [RCV000764223] | Chr19:50407357 [GRCh38] Chr19:50910614 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_002691.4(POLD1):c.1969C>T (p.Pro657Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000535777] | Chr19:50409198 [GRCh38] Chr19:50912455 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536205]|Colorectal cancer, susceptibility to, 10 [RCV002491067]|POLD1-related condition [RCV003403311]|not provided [RCV001284211] | Chr19:50416694 [GRCh38] Chr19:50919951 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1136A>G (p.Gln379Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536765]|Hereditary cancer-predisposing syndrome [RCV002448730]|not provided [RCV003317272] | Chr19:50403218 [GRCh38] Chr19:50906475 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.269A>G (p.Gln90Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537222]|Hereditary cancer-predisposing syndrome [RCV002438433]|not provided [RCV001770453] | Chr19:50399437 [GRCh38] Chr19:50902694 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+6G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000537248] | Chr19:50406328 [GRCh38] Chr19:50909585 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.841-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000812493]|Hereditary cancer-predisposing syndrome [RCV000574124] | Chr19:50402609 [GRCh38] Chr19:50905866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3291G>C (p.Arg1097=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000538118] | Chr19:50417914 [GRCh38] Chr19:50921171 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2926G>A (p.Glu976Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000538566]|not provided [RCV001546762] | Chr19:50416501 [GRCh38] Chr19:50919758 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.357C>A (p.Arg119=) | single nucleotide variant | not specified [RCV000600537] | Chr19:50401818 [GRCh38] Chr19:50905075 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1072C>T (p.Arg358Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000703990]|Hereditary cancer-predisposing syndrome [RCV000571769]|not provided [RCV001755952] | Chr19:50403154 [GRCh38] Chr19:50906411 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.261G>A (p.Leu87=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000977156]|Hereditary cancer-predisposing syndrome [RCV000571791]|not specified [RCV003493659] | Chr19:50399429 [GRCh38] Chr19:50902686 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2377G>C (p.Glu793Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539021] | Chr19:50413868 [GRCh38] Chr19:50917125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539356] | Chr19:50416730 [GRCh38] Chr19:50919987 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1511C>T (p.Thr504Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540090] | Chr19:50406999 [GRCh38] Chr19:50910256 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.544C>A (p.Leu182Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540580]|Hereditary cancer-predisposing syndrome [RCV002350311]|not provided [RCV001567818] | Chr19:50402079 [GRCh38] Chr19:50905336 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540879] | Chr19:50415600 [GRCh38] Chr19:50918857 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2123T>G (p.Val708Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540974]|not provided [RCV003314615] | Chr19:50409635 [GRCh38] Chr19:50912892 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698222]|Hereditary cancer-predisposing syndrome [RCV000574660]|not provided [RCV001550906]|not specified [RCV000736108] | Chr19:50403503 [GRCh38] Chr19:50906760 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_002691.4(POLD1):c.1483_1488del (p.Thr495_Asp496del) | deletion | Hereditary cancer-predisposing syndrome [RCV000574795] | Chr19:50406505..50406510 [GRCh38] Chr19:50909762..50909767 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1225C>T (p.Arg409Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645832]|Hereditary cancer-predisposing syndrome [RCV000570290]|not provided [RCV001755960] | Chr19:50403580 [GRCh38] Chr19:50906837 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.111C>T (p.Asp37=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000543485]|Hereditary cancer-predisposing syndrome [RCV002438432] | Chr19:50398962 [GRCh38] Chr19:50902219 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1994G>A (p.Ser665Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000550676]|Hereditary cancer-predisposing syndrome [RCV002420475] | Chr19:50409223 [GRCh38] Chr19:50912480 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.75T>C (p.Asp25=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001490364]|Hereditary cancer-predisposing syndrome [RCV002395600]|not provided [RCV001698112] | Chr19:50398926 [GRCh38] Chr19:50902183 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.487G>T (p.Asp163Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001868083]|not specified [RCV000607310] | Chr19:50402022 [GRCh38] Chr19:50905279 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1215C>T (p.Tyr405=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645906]|Hereditary cancer-predisposing syndrome [RCV001010331]|not specified [RCV000607415] | Chr19:50403570 [GRCh38] Chr19:50906827 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-15G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064175]|not provided [RCV000679476]|not specified [RCV000602081] | Chr19:50406167 [GRCh38] Chr19:50909424 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1794C>A (p.Ile598=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301341] | Chr19:50408803 [GRCh38] Chr19:50912060 [GRCh37] Chr19:19q13.33 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_002691.4(POLD1):c.2430G>C (p.Ala810=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001403394]|Hereditary cancer-predisposing syndrome [RCV000569415]|not provided [RCV000841329] | Chr19:50414856 [GRCh38] Chr19:50918113 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1195C>G (p.Gln399Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569666] | Chr19:50403550 [GRCh38] Chr19:50906807 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002065331]|not specified [RCV000609455] | Chr19:50403232 [GRCh38] Chr19:50906489 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645838]|not specified [RCV000609517] | Chr19:50416679 [GRCh38] Chr19:50919936 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.450C>G (p.Thr150=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001486484]|Hereditary cancer-predisposing syndrome [RCV000571682] | Chr19:50401911 [GRCh38] Chr19:50905168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2514C>A (p.Pro838=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536937]|Hereditary cancer-predisposing syndrome [RCV002431650] | Chr19:50414940 [GRCh38] Chr19:50918197 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1281T>G (p.Leu427=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000867330]|Hereditary cancer-predisposing syndrome [RCV001010737]|not provided [RCV003424185]|not specified [RCV000612312] | Chr19:50406220 [GRCh38] Chr19:50909477 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-15C>T | single nucleotide variant | not specified [RCV000612327] | Chr19:50415709 [GRCh38] Chr19:50918966 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.952G>A (p.Glu318Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000538810]|Hereditary cancer-predisposing syndrome [RCV002377118] | Chr19:50402723 [GRCh38] Chr19:50905980 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3150C>T (p.Arg1050=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539125] | Chr19:50417201 [GRCh38] Chr19:50920458 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2552T>C (p.Leu851Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000539416] | Chr19:50414978 [GRCh38] Chr19:50918235 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3027C>G (p.Arg1009=) | single nucleotide variant | not specified [RCV000607012] | Chr19:50416683 [GRCh38] Chr19:50919940 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001855222]|not specified [RCV000612632] | Chr19:50408768 [GRCh38] Chr19:50912025 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3120+6A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000823576]|not provided [RCV001704831] | Chr19:50417103 [GRCh38] Chr19:50920360 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.151CAGGAG[1] (p.51QE[1]) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000662577]|Hereditary cancer-predisposing syndrome [RCV000571973] | Chr19:50399001..50399006 [GRCh38] Chr19:50902258..50902263 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.53_61del (p.Ala18_Gly20del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001224466]|Hereditary cancer-predisposing syndrome [RCV000572088] | Chr19:50398901..50398909 [GRCh38] Chr19:50902158..50902166 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3314A>G (p.Glu1105Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000540009]|not provided [RCV001536595] | Chr19:50417937 [GRCh38] Chr19:50921194 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1323G>A (p.Thr441=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645948]|Hereditary cancer-predisposing syndrome [RCV000574424]|not specified [RCV003321678] | Chr19:50406262 [GRCh38] Chr19:50909519 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2727G>T (p.Lys909Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541095] | Chr19:50415733 [GRCh38] Chr19:50918990 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2184C>A (p.Ile728=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000541294] | Chr19:50413455 [GRCh38] Chr19:50916712 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-9A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000865185]|not specified [RCV000615611] | Chr19:50401769 [GRCh38] Chr19:50905026 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1551C>T (p.Tyr517=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001412637]|Hereditary cancer-predisposing syndrome [RCV000572243] | Chr19:50407039 [GRCh38] Chr19:50910296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.933C>A (p.Arg311=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645946]|Hereditary cancer-predisposing syndrome [RCV002377319]|not specified [RCV000601825] | Chr19:50402704 [GRCh38] Chr19:50905961 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063007]|not specified [RCV000612850] | Chr19:50403233 [GRCh38] Chr19:50906490 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-22_2007-15dup | duplication | not specified [RCV000612949] | Chr19:50409496..50409497 [GRCh38] Chr19:50912753..50912754 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2460C>T (p.Ala820=) | single nucleotide variant | not specified [RCV000607338] | Chr19:50414886 [GRCh38] Chr19:50918143 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063013]|not specified [RCV000613013] | Chr19:50409512 [GRCh38] Chr19:50912769 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2208G>A (p.Glu736=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064020]|Hereditary cancer-predisposing syndrome [RCV002431783]|not specified [RCV000613118] | Chr19:50413479 [GRCh38] Chr19:50916736 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3192C>T (p.Ser1064=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087096]|Hereditary cancer-predisposing syndrome [RCV002448897]|not provided [RCV000679511]|not specified [RCV000613146] | Chr19:50417243 [GRCh38] Chr19:50920500 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-4G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001462230]|not specified [RCV000616259] | Chr19:50416392 [GRCh38] Chr19:50919649 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.282C>A (p.Leu94=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002529763]|Hereditary cancer-predisposing syndrome [RCV002438589]|not specified [RCV000616311] | Chr19:50399450 [GRCh38] Chr19:50902707 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+2T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001063039]|not specified [RCV000607672] | Chr19:50409668 [GRCh38] Chr19:50912925 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-14C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064040]|not specified [RCV000616440] | Chr19:50415424 [GRCh38] Chr19:50918681 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-19G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640917]|not specified [RCV000607908] | Chr19:50414796 [GRCh38] Chr19:50918053 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.489C>T (p.Asp163=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002531559]|not specified [RCV000607954] | Chr19:50402024 [GRCh38] Chr19:50905281 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1929G>C (p.Gly643=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001414475]|Hereditary cancer-predisposing syndrome [RCV002413720]|not specified [RCV000613405] | Chr19:50409158 [GRCh38] Chr19:50912415 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1128C>A (p.Asp376Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001321746]|Hereditary cancer-predisposing syndrome [RCV000569965] | Chr19:50403210 [GRCh38] Chr19:50906467 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1091T>C (p.Leu364Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000793178]|Hereditary cancer-predisposing syndrome [RCV000572835] | Chr19:50403173 [GRCh38] Chr19:50906430 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2320C>G (p.Leu774Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525156]|Hereditary cancer-predisposing syndrome [RCV003159857] | Chr19:50413811 [GRCh38] Chr19:50917068 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064201]|not specified [RCV000608065] | Chr19:50402757 [GRCh38] Chr19:50906014 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.777C>T (p.Asp259=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402164]|Hereditary cancer-predisposing syndrome [RCV002413727]|not specified [RCV000610734] | Chr19:50402472 [GRCh38] Chr19:50905729 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.498G>A (p.Arg166=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064133]|not specified [RCV000610783] | Chr19:50402033 [GRCh38] Chr19:50905290 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-4C>G | single nucleotide variant | not specified [RCV000610860] | Chr19:50414811 [GRCh38] Chr19:50918068 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.339G>A (p.Gly113=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001469914]|Hereditary cancer-predisposing syndrome [RCV000572990] | Chr19:50401800 [GRCh38] Chr19:50905057 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.657C>T (p.Leu219=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990249]|Hereditary cancer-predisposing syndrome [RCV000572991]|POLD1-related condition [RCV003980056]|not provided [RCV000759248] | Chr19:50402272 [GRCh38] Chr19:50905529 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1027C>T (p.Arg343Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000525729]|Hereditary cancer-predisposing syndrome [RCV001017022]|POLD1-related condition [RCV003962539]|not provided [RCV001770451] | Chr19:50403109 [GRCh38] Chr19:50906366 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.538A>C (p.Arg180=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001482719]|Hereditary cancer-predisposing syndrome [RCV002350310] | Chr19:50402073 [GRCh38] Chr19:50905330 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.868G>A (p.Val290Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645823]|not provided [RCV001568631]|not specified [RCV000610865] | Chr19:50402639 [GRCh38] Chr19:50905896 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-2+16A>G | single nucleotide variant | not specified [RCV000611030] | Chr19:50384406 [GRCh38] Chr19:50887663 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002065286]|not provided [RCV001707791] | Chr19:50416598 [GRCh38] Chr19:50919855 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1752C>T (p.Ala584=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527723]|Hereditary cancer-predisposing syndrome [RCV002404494] | Chr19:50407392 [GRCh38] Chr19:50910649 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.666G>C (p.Pro222=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000527941]|Hereditary cancer-predisposing syndrome [RCV002367887]|not provided [RCV001569606] | Chr19:50402281 [GRCh38] Chr19:50905538 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-4G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001503342]|Hereditary cancer-predisposing syndrome [RCV000573236] | Chr19:50403049 [GRCh38] Chr19:50906306 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2577C>G (p.Gly859=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000528160]|Hereditary cancer-predisposing syndrome [RCV002456168]|not specified [RCV000615804] | Chr19:50415450 [GRCh38] Chr19:50918707 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.426C>T (p.His142=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645929]|Hereditary cancer-predisposing syndrome [RCV002331078]|not specified [RCV000608401] | Chr19:50401887 [GRCh38] Chr19:50905144 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2781C>T (p.Ile927=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645924]|Hereditary cancer-predisposing syndrome [RCV002438586]|not provided [RCV001698010]|not specified [RCV001821742] | Chr19:50415787 [GRCh38] Chr19:50919044 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1507C>G (p.Gln503Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001853740]|Hereditary cancer-predisposing syndrome [RCV000573348] | Chr19:50406995 [GRCh38] Chr19:50910252 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.819C>G (p.Tyr273Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000529473] | Chr19:50402514 [GRCh38] Chr19:50905771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1055G>T (p.Arg352Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000529496]|Hereditary cancer-predisposing syndrome [RCV003380617]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001292828]|not provided [RCV003226942] | Chr19:50403137 [GRCh38] Chr19:50906394 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-8_2954-7del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000530035] | Chr19:50416599..50416600 [GRCh38] Chr19:50919856..50919857 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2428G>T (p.Ala810Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530312] | Chr19:50414854 [GRCh38] Chr19:50918111 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2145G>A (p.Glu715=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000530984] | Chr19:50409657 [GRCh38] Chr19:50912914 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001473822]|not specified [RCV000608831] | Chr19:50417107 [GRCh38] Chr19:50920364 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1641C>T (p.Leu547=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001456007]|Hereditary cancer-predisposing syndrome [RCV002404689]|not specified [RCV000611421] | Chr19:50407129 [GRCh38] Chr19:50910386 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-2+19G>A | single nucleotide variant | not specified [RCV000614349] | Chr19:50384409 [GRCh38] Chr19:50887666 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1310A>G (p.Gln437Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531173] | Chr19:50406249 [GRCh38] Chr19:50909506 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.405_406delinsTC (p.Ser136Pro) | indel | Colorectal cancer, susceptibility to, 10 [RCV000531379] | Chr19:50401866..50401867 [GRCh38] Chr19:50905123..50905124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531499]|Colorectal cancer, susceptibility to, 10 [RCV002491066]|Hereditary cancer-predisposing syndrome [RCV001012220]|not provided [RCV001591246] | Chr19:50407062 [GRCh38] Chr19:50910319 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.96C>T (p.Ser32=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531526] | Chr19:50398947 [GRCh38] Chr19:50902204 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2581G>A (p.Val861Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000531806]|not provided [RCV001557449] | Chr19:50415454 [GRCh38] Chr19:50918711 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.780C>T (p.Ile260=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001086935]|Hereditary cancer-predisposing syndrome [RCV002413746]|not provided [RCV000679527]|not specified [RCV000611764] | Chr19:50402475 [GRCh38] Chr19:50905732 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002065230]|not specified [RCV000614556] | Chr19:50417033 [GRCh38] Chr19:50920290 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1797C>T (p.Ala599=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640912]|Hereditary cancer-predisposing syndrome [RCV000571166] | Chr19:50408806 [GRCh38] Chr19:50912063 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1456_1458del (p.Lys486del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001853739]|Hereditary cancer-predisposing syndrome [RCV000571240] | Chr19:50406477..50406479 [GRCh38] Chr19:50909734..50909736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2238C>T (p.Ser746=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000532547]|Hereditary cancer-predisposing syndrome [RCV003302858] | Chr19:50413509 [GRCh38] Chr19:50916766 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.363C>A (p.Ser121=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000532820] | Chr19:50401824 [GRCh38] Chr19:50905081 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1841A>T (p.His614Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000532882] | Chr19:50408850 [GRCh38] Chr19:50912107 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2973C>G (p.Cys991Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533206]|not provided [RCV002464253] | Chr19:50416629 [GRCh38] Chr19:50919886 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3285C>A (p.Leu1095=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000533775]|Hereditary cancer-predisposing syndrome [RCV002448732] | Chr19:50417908 [GRCh38] Chr19:50921165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1270G>T (p.Val424Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001045280]|Hereditary cancer-predisposing syndrome [RCV000571312] | Chr19:50406209 [GRCh38] Chr19:50909466 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.947A>G (p.Asp316Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571390] | Chr19:50402718 [GRCh38] Chr19:50905975 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1681C>T (p.Arg561Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000534183]|not provided [RCV000679481] | Chr19:50407169 [GRCh38] Chr19:50910426 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2833G>A (p.Val945Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000534238]|not provided [RCV003327417]|not specified [RCV001821556] | Chr19:50416408 [GRCh38] Chr19:50919665 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2678A>G (p.Asp893Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000534737]|not provided [RCV003313098] | Chr19:50415551 [GRCh38] Chr19:50918808 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063135]|not specified [RCV000609338] | Chr19:50402753 [GRCh38] Chr19:50906010 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000942161]|not provided [RCV001698490]|not specified [RCV003493682] | Chr19:50407317 [GRCh38] Chr19:50910574 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893C>G (p.Gly631=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000800733]|Hereditary cancer-predisposing syndrome [RCV002413731]|not provided [RCV001697904] | Chr19:50409122 [GRCh38] Chr19:50912379 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.637A>G (p.Thr213Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536380]|Hereditary cancer-predisposing syndrome [RCV002358544] | Chr19:50402252 [GRCh38] Chr19:50905509 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.193G>A (p.Val65Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000536716] | Chr19:50399044 [GRCh38] Chr19:50902301 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001256849.1(POLD1):c.-51G>C | single nucleotide variant | not specified [RCV000604938] | Chr19:50384344 [GRCh38] Chr19:50887601 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+4C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000803222]|Hereditary cancer-predisposing syndrome [RCV000569166]|not provided [RCV000842312] | Chr19:50402377 [GRCh38] Chr19:50905634 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu) | single nucleotide variant | Colorectal cancer [RCV000590955]|Colorectal cancer, susceptibility to, 10 [RCV000689432]|Malignant tumor of breast [RCV001357503]|not provided [RCV001571499]|not specified [RCV002465730] | Chr19:50398897 [GRCh38] Chr19:50902154 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-14G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064123]|not specified [RCV000606399] | Chr19:50403479 [GRCh38] Chr19:50906736 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2820+12C>T | single nucleotide variant | Carcinoma of colon [RCV001354769]|not specified [RCV000601080] | Chr19:50415838 [GRCh38] Chr19:50919095 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+20G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002064190]|not specified [RCV000600821] | Chr19:50409686 [GRCh38] Chr19:50912943 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645779] | Chr19:50399370 [GRCh38] Chr19:50902627 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1901A>C (p.Glu634Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645780]|Hereditary cancer-predisposing syndrome [RCV002406412]|not provided [RCV001731839] | Chr19:50409130 [GRCh38] Chr19:50912387 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2360C>A (p.Pro787Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645781] | Chr19:50413851 [GRCh38] Chr19:50917108 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3095G>T (p.Arg1032Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645782] | Chr19:50417072 [GRCh38] Chr19:50920329 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2570C>T (p.Pro857Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645783]|not provided [RCV002274079] | Chr19:50415443 [GRCh38] Chr19:50918700 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2864A>T (p.Gln955Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645784] | Chr19:50416439 [GRCh38] Chr19:50919696 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1094G>C (p.Gly365Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645786] | Chr19:50403176 [GRCh38] Chr19:50906433 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1233G>C (p.Gln411His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645787]|Hereditary cancer-predisposing syndrome [RCV002360597]|not provided [RCV001571160] | Chr19:50403588 [GRCh38] Chr19:50906845 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1357G>C (p.Gly453Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645788] | Chr19:50406296 [GRCh38] Chr19:50909553 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645789] | Chr19:50417163 [GRCh38] Chr19:50920420 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.71ATG[5] (p.Asp27dup) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000645795]|Hereditary cancer-predisposing syndrome [RCV002422341] | Chr19:50398920..50398921 [GRCh38] Chr19:50902177..50902178 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.193G>C (p.Val65Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645796]|Hereditary cancer-predisposing syndrome [RCV002406413]|not provided [RCV001584487] | Chr19:50399044 [GRCh38] Chr19:50902301 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.77A>G (p.Asp26Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645797] | Chr19:50398928 [GRCh38] Chr19:50902185 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.554C>T (p.Pro185Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645798] | Chr19:50402089 [GRCh38] Chr19:50905346 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+1dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000645799]|not provided [RCV003313123] | Chr19:50402740..50402741 [GRCh38] Chr19:50905997..50905998 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2718-2A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645800] | Chr19:50415722 [GRCh38] Chr19:50918979 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2864A>G (p.Gln955Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645801]|Inborn genetic diseases [RCV003303047] | Chr19:50416439 [GRCh38] Chr19:50919696 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.920T>C (p.Ile307Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645804] | Chr19:50402691 [GRCh38] Chr19:50905948 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1917G>T (p.Arg639Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645777] | Chr19:50409146 [GRCh38] Chr19:50912403 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.901del (p.Glu301fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645776] | Chr19:50402671 [GRCh38] Chr19:50905928 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3075G>A (p.Val1025=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001496211]|Hereditary cancer-predisposing syndrome [RCV002319537]|not specified [RCV000601038] | Chr19:50417052 [GRCh38] Chr19:50920309 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002063866]|not specified [RCV000606504] | Chr19:50399496 [GRCh38] Chr19:50902753 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2093A>G (p.Asn698Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645775] | Chr19:50409605 [GRCh38] Chr19:50912862 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.930G>C (p.Leu310Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645771]|Hereditary cancer-predisposing syndrome [RCV002369711] | Chr19:50402701 [GRCh38] Chr19:50905958 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2460_2467dup (p.Arg823fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000645814]|not specified [RCV002268231] | Chr19:50414884..50414885 [GRCh38] Chr19:50918141..50918142 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.565G>T (p.Ala189Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645817]|Hereditary cancer-predisposing syndrome [RCV002343319]|not provided [RCV002284416]|not specified [RCV002248840] | Chr19:50402100 [GRCh38] Chr19:50905357 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1171G>A (p.Asp391Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645818] | Chr19:50403526 [GRCh38] Chr19:50906783 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1274C>G (p.Ala425Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645819]|Hereditary cancer-predisposing syndrome [RCV003372785] | Chr19:50406213 [GRCh38] Chr19:50909470 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.667G>A (p.Ala223Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645820] | Chr19:50402282 [GRCh38] Chr19:50905539 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.724G>A (p.Ala242Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645821]|not provided [RCV000759251] | Chr19:50402339 [GRCh38] Chr19:50905596 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2932C>T (p.Arg978Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645822]|Hereditary cancer-predisposing syndrome [RCV002440319]|not provided [RCV000732270] | Chr19:50416507 [GRCh38] Chr19:50919764 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1529T>C (p.Val510Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645824]|Hereditary cancer-predisposing syndrome [RCV002397254] | Chr19:50407017 [GRCh38] Chr19:50910274 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2783G>C (p.Ser928Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645825]|Hereditary cancer-predisposing syndrome [RCV002440320] | Chr19:50415789 [GRCh38] Chr19:50919046 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1891G>A (p.Gly631Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645827]|Hereditary cancer-predisposing syndrome [RCV002406415] | Chr19:50408900 [GRCh38] Chr19:50912157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2968C>T (p.Arg990Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645828] | Chr19:50416624 [GRCh38] Chr19:50919881 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1897A>G (p.Thr633Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645829] | Chr19:50409126 [GRCh38] Chr19:50912383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.178T>C (p.Ser60Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645830]|not provided [RCV003317318] | Chr19:50399029 [GRCh38] Chr19:50902286 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2435_2454dup (p.Asp819fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000645831] | Chr19:50414858..50414859 [GRCh38] Chr19:50918115..50918116 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.233G>C (p.Arg78Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645837] | Chr19:50399401 [GRCh38] Chr19:50902658 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.393C>A (p.Thr131=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645840]|Hereditary cancer-predisposing syndrome [RCV002369712] | Chr19:50401854 [GRCh38] Chr19:50905111 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3244C>T (p.Arg1082Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645841] | Chr19:50417867 [GRCh38] Chr19:50921124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2792A>G (p.Lys931Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645842]|Hereditary cancer-predisposing syndrome [RCV002440321] | Chr19:50415798 [GRCh38] Chr19:50919055 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.471del (p.Glu159fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645845]|Hereditary cancer-predisposing syndrome [RCV001022950]|not provided [RCV000657453] | Chr19:50402004 [GRCh38] Chr19:50905261 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.836A>T (p.Glu279Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645846] | Chr19:50402531 [GRCh38] Chr19:50905788 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.62G>T (p.Gly21Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645848]|Hereditary cancer-predisposing syndrome [RCV003303048] | Chr19:50398913 [GRCh38] Chr19:50902170 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.26C>T (p.Pro9Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645849] | Chr19:50398877 [GRCh38] Chr19:50902134 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2910C>G (p.Phe970Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645850]|Hereditary cancer-predisposing syndrome [RCV002440322] | Chr19:50416485 [GRCh38] Chr19:50919742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645860]|Colorectal cancer, susceptibility to, 10 [RCV002483864]|Hereditary cancer-predisposing syndrome [RCV000664283]|not provided [RCV000759235] | Chr19:50416528 [GRCh38] Chr19:50919785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2630A>G (p.Asp877Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645861]|Hereditary cancer-predisposing syndrome [RCV002458095]|not provided [RCV003322803] | Chr19:50415503 [GRCh38] Chr19:50918760 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+5T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645864] | Chr19:50415595 [GRCh38] Chr19:50918852 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3179G>A (p.Arg1060His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645867]|Hereditary cancer-predisposing syndrome [RCV002255488]|not provided [RCV003324780] | Chr19:50417230 [GRCh38] Chr19:50920487 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.338_370del (p.Gly113_Pro123del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645868] | Chr19:50401792..50401824 [GRCh38] Chr19:50905049..50905081 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1144T>C (p.Ser382Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645869]|Hereditary cancer-predisposing syndrome [RCV003162929] | Chr19:50403499 [GRCh38] Chr19:50906756 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2209T>C (p.Ser737Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645871] | Chr19:50413480 [GRCh38] Chr19:50916737 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2513C>T (p.Pro838Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645880]|Hereditary cancer-predisposing syndrome [RCV003162930] | Chr19:50414939 [GRCh38] Chr19:50918196 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3241A>G (p.Met1081Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645881]|Hereditary cancer-predisposing syndrome [RCV003303049] | Chr19:50417864 [GRCh38] Chr19:50921121 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2759A>G (p.Asp920Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645882]|Hereditary cancer-predisposing syndrome [RCV002440323] | Chr19:50415765 [GRCh38] Chr19:50919022 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2510G>A (p.Cys837Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645883] | Chr19:50414936 [GRCh38] Chr19:50918193 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.154G>A (p.Glu52Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645884]|Hereditary cancer-predisposing syndrome [RCV003162931] | Chr19:50399005 [GRCh38] Chr19:50902262 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2855T>C (p.Ile952Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645885]|Hereditary cancer-predisposing syndrome [RCV002440324]|not provided [RCV001284210] | Chr19:50416430 [GRCh38] Chr19:50919687 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1810T>G (p.Ser604Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645891]|Hereditary cancer-predisposing syndrome [RCV002406416] | Chr19:50408819 [GRCh38] Chr19:50912076 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1614C>T (p.Val538=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645892]|Hereditary cancer-predisposing syndrome [RCV002397255] | Chr19:50407102 [GRCh38] Chr19:50910359 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2490G>A (p.Glu830=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645899]|Hereditary cancer-predisposing syndrome [RCV002424481] | Chr19:50414916 [GRCh38] Chr19:50918173 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-5C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645923]|Hereditary cancer-predisposing syndrome [RCV002369715] | Chr19:50403048 [GRCh38] Chr19:50906305 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3120+7G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645932] | Chr19:50417104 [GRCh38] Chr19:50920361 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1677G>A (p.Leu559=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001403274]|Hereditary cancer-predisposing syndrome [RCV002397256] | Chr19:50407165 [GRCh38] Chr19:50910422 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2937C>T (p.Ala979=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645947]|Hereditary cancer-predisposing syndrome [RCV002440325]|not provided [RCV001566417]|not specified [RCV003321705] | Chr19:50416512 [GRCh38] Chr19:50919769 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2451G>T (p.Arg817=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645950]|Hereditary cancer-predisposing syndrome [RCV002458096] | Chr19:50414877 [GRCh38] Chr19:50918134 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2544G>A (p.Leu848=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645956] | Chr19:50414970 [GRCh38] Chr19:50918227 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.435T>C (p.Ala145=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645959]|Hereditary cancer-predisposing syndrome [RCV002331201] | Chr19:50401896 [GRCh38] Chr19:50905153 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645960] | Chr19:50407184 [GRCh38] Chr19:50910441 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-4C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000645962] | Chr19:50409118 [GRCh38] Chr19:50912375 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1338C>G (p.Thr446=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402368] | Chr19:50406277 [GRCh38] Chr19:50909534 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.10:g.(?_50401772)_(50403603_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645968] | Chr19:50401772..50403603 [GRCh38] Chr19:50905029..50906860 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50912036)_(50920532_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000645969] | Chr19:50408779..50417275 [GRCh38] Chr19:50912036..50920532 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50398846)_(50406523_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000645970] | Chr19:50398846..50406523 [GRCh38] Chr19:50902103..50909780 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000799439]|Hereditary cancer-predisposing syndrome [RCV002404616]|not specified [RCV000601615] | Chr19:50407375 [GRCh38] Chr19:50910632 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1513C>T (p.Arg505Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686431]|Hereditary cancer-predisposing syndrome [RCV001011978] | Chr19:50407001 [GRCh38] Chr19:50910258 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3217A>G (p.Ser1073Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686519] | Chr19:50417268 [GRCh38] Chr19:50920525 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2933G>C (p.Arg978Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686629] | Chr19:50416508 [GRCh38] Chr19:50919765 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-83del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000662975]|not provided [RCV001672924] | Chr19:50408691 [GRCh38] Chr19:50911948 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2284C>T (p.Arg762Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000692252]|Hereditary cancer-predisposing syndrome [RCV001015059]|not provided [RCV000657763] | Chr19:50413775 [GRCh38] Chr19:50917032 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.429C>T (p.Gly143=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001437001]|Hereditary cancer-predisposing syndrome [RCV000664285]|POLD1-related condition [RCV003945693] | Chr19:50401890 [GRCh38] Chr19:50905147 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1687-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000663241] | Chr19:50407320 [GRCh38] Chr19:50910577 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1773dup (p.Gly592fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000662478] | Chr19:50407410..50407411 [GRCh38] Chr19:50910667..50910668 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-1-2A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662715] | Chr19:50398849 [GRCh38] Chr19:50902106 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2887_2888insGGCCTGG (p.Ala963fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV000662758] | Chr19:50416458..50416459 [GRCh38] Chr19:50919715..50919716 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662942] | Chr19:50415425 [GRCh38] Chr19:50918682 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2155-15T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662970] | Chr19:50413411 [GRCh38] Chr19:50916668 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.*54C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662978] | Chr19:50418001 [GRCh38] Chr19:50921258 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+12_2953+14delinsTC | indel | Colorectal cancer, susceptibility to, 10 [RCV000663042] | Chr19:50416540..50416542 [GRCh38] Chr19:50919797..50919799 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1171dup (p.Asp391fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000662440] | Chr19:50403525..50403526 [GRCh38] Chr19:50906782..50906783 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662526] | Chr19:50417043 [GRCh38] Chr19:50920300 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000662915] | Chr19:50415423 [GRCh38] Chr19:50918680 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity |
NM_002691.4(POLD1):c.3074_3076dup (p.Val1025_Cys1026insLeu) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000663152] | Chr19:50417050..50417051 [GRCh38] Chr19:50920307..50920308 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-14G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000663235] | Chr19:50403479 [GRCh38] Chr19:50906736 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.890G>T (p.Ser297Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699046] | Chr19:50402661 [GRCh38] Chr19:50905918 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.95C>T (p.Ser32Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699121]|Hereditary cancer-predisposing syndrome [RCV002386231]|not provided [RCV001799702] | Chr19:50398946 [GRCh38] Chr19:50902203 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.262G>A (p.Asp88Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699755]|Hereditary cancer-predisposing syndrome [RCV003163240]|not provided [RCV001552188] | Chr19:50399430 [GRCh38] Chr19:50902687 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.780C>G (p.Ile260Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699903]|not provided [RCV000759965] | Chr19:50402475 [GRCh38] Chr19:50905732 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1032G>T (p.Trp344Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700375] | Chr19:50403114 [GRCh38] Chr19:50906371 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1837G>A (p.Ala613Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700424] | Chr19:50408846 [GRCh38] Chr19:50912103 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700510] | Chr19:50417039 [GRCh38] Chr19:50920296 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.217T>A (p.Ser73Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698014]|Hereditary cancer-predisposing syndrome [RCV003163223] | Chr19:50399385 [GRCh38] Chr19:50902642 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2154+20del | deletion | not provided [RCV000679491] | Chr19:50409685 [GRCh38] Chr19:50912942 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.84A>G (p.Ala28=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001403428]|Hereditary cancer-predisposing syndrome [RCV002442407]|not provided [RCV000679530] | Chr19:50398935 [GRCh38] Chr19:50902192 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-10dup | duplication | not provided [RCV000679510] | Chr19:50401767..50401768 [GRCh38] Chr19:50905024..50905025 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-25_3219-20dup | duplication | not provided [RCV001546809]|not specified [RCV000679515] | Chr19:50417812..50417813 [GRCh38] Chr19:50921069..50921070 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.3219-24CCCTGC[3] | microsatellite | not provided [RCV001709682]|not specified [RCV000679513] | Chr19:50417817..50417818 [GRCh38] Chr19:50921074..50921075 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1775+12G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002066992]|not provided [RCV000679483] | Chr19:50407427 [GRCh38] Chr19:50910684 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.241C>T (p.Arg81Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000684852]|Hereditary cancer-predisposing syndrome [RCV002442406]|not provided [RCV000679495] | Chr19:50399409 [GRCh38] Chr19:50902666 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.989A>G (p.Glu330Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701744] | Chr19:50403071 [GRCh38] Chr19:50906328 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.52G>A (p.Ala18Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701833] | Chr19:50398903 [GRCh38] Chr19:50902160 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2116G>A (p.Ala706Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687845] | Chr19:50409628 [GRCh38] Chr19:50912885 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.686A>G (p.Gln229Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702565]|Hereditary cancer-predisposing syndrome [RCV002369937] | Chr19:50402301 [GRCh38] Chr19:50905558 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2225A>T (p.Glu742Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702824]|Hereditary cancer-predisposing syndrome [RCV003372824] | Chr19:50413496 [GRCh38] Chr19:50916753 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3129T>A (p.His1043Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000688661] | Chr19:50417180 [GRCh38] Chr19:50920437 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1476C>G (p.Ser492Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699425]|Hereditary cancer-predisposing syndrome [RCV002388300] | Chr19:50406499 [GRCh38] Chr19:50909756 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3047G>A (p.Arg1016His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698097] | Chr19:50416703 [GRCh38] Chr19:50919960 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+2T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698218] | Chr19:50417271 [GRCh38] Chr19:50920528 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.812G>A (p.Gly271Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000685463] | Chr19:50402507 [GRCh38] Chr19:50905764 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3073G>C (p.Val1025Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700137]|Hereditary cancer-predisposing syndrome [RCV002319560] | Chr19:50417050 [GRCh38] Chr19:50920307 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2590G>T (p.Ala864Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686218] | Chr19:50415463 [GRCh38] Chr19:50918720 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2449C>T (p.Arg817Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686559]|Hereditary cancer-predisposing syndrome [RCV002424588]|not provided [RCV002245587] | Chr19:50414875 [GRCh38] Chr19:50918132 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1874G>C (p.Gly625Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686516] | Chr19:50408883 [GRCh38] Chr19:50912140 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2665C>T (p.Arg889Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701033]|not provided [RCV001771987] | Chr19:50415538 [GRCh38] Chr19:50918795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.197C>T (p.Ala66Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701516]|not provided [RCV001766538] | Chr19:50399048 [GRCh38] Chr19:50902305 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3203_3218+1del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000706766] | Chr19:50417251..50417267 [GRCh38] Chr19:50920508..50920524 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.757C>T (p.Arg253Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000694617]|not provided [RCV003227830] | Chr19:50402372 [GRCh38] Chr19:50905629 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2048G>A (p.Arg683His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690216]|not provided [RCV000759226] | Chr19:50409560 [GRCh38] Chr19:50912817 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.859G>A (p.Glu287Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687507] | Chr19:50402630 [GRCh38] Chr19:50905887 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+5A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687617] | Chr19:50408906 [GRCh38] Chr19:50912163 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2900T>C (p.Leu967Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000707227] | Chr19:50416475 [GRCh38] Chr19:50919732 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2657A>G (p.Glu886Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693274] | Chr19:50415530 [GRCh38] Chr19:50918787 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2667_2670dup (p.Ala891fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000690289] | Chr19:50415537..50415538 [GRCh38] Chr19:50918794..50918795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.611A>T (p.His204Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687685] | Chr19:50402226 [GRCh38] Chr19:50905483 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.337G>A (p.Gly113Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702140] | Chr19:50401798 [GRCh38] Chr19:50905055 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1228G>A (p.Ala410Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000704898]|Hereditary cancer-predisposing syndrome [RCV001010442] | Chr19:50403583 [GRCh38] Chr19:50906840 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2218A>C (p.Thr740Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702441]|Hereditary cancer-predisposing syndrome [RCV002424692] | Chr19:50413489 [GRCh38] Chr19:50916746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.274G>A (p.Glu92Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690882] | Chr19:50399442 [GRCh38] Chr19:50902699 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3175C>T (p.Gln1059Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690884]|Hereditary cancer-predisposing syndrome [RCV001018976] | Chr19:50417226 [GRCh38] Chr19:50920483 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2809A>G (p.Met937Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000691165] | Chr19:50415815 [GRCh38] Chr19:50919072 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1816C>A (p.Leu606Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000688430] | Chr19:50408825 [GRCh38] Chr19:50912082 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2825C>T (p.Pro942Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000691318] | Chr19:50416400 [GRCh38] Chr19:50919657 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+6G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000691305] | Chr19:50416534 [GRCh38] Chr19:50919791 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902099)_(50921214_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000707945] | Chr19:50398842..50417957 [GRCh38] Chr19:50902099..50921214 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902099)_(50906864_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000707973] | Chr19:50398842..50403607 [GRCh38] Chr19:50902099..50906864 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.470G>A (p.Gly157Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702930] | Chr19:50402005 [GRCh38] Chr19:50905262 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.652C>T (p.Arg218Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000691395]|Colorectal cancer, susceptibility to, 10 [RCV000764213]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV003133531] | Chr19:50402267 [GRCh38] Chr19:50905524 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50398842)_(50409676_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000708006] | Chr19:50398842..50409676 [GRCh38] Chr19:50902099..50912933 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3027C>T (p.Arg1009=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000691578] | Chr19:50416683 [GRCh38] Chr19:50919940 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2564G>A (p.Arg855Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000705768]|not provided [RCV001565028] | Chr19:50414990 [GRCh38] Chr19:50918247 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2758_2759delinsTT (p.Asp920Phe) | indel | Colorectal cancer, susceptibility to, 10 [RCV000705782] | Chr19:50415764..50415765 [GRCh38] Chr19:50919021..50919022 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.472C>T (p.Pro158Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000694147] | Chr19:50402007 [GRCh38] Chr19:50905264 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1694A>C (p.His565Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699130]|Hereditary cancer-predisposing syndrome [RCV003163231]|not provided [RCV003236835] | Chr19:50407334 [GRCh38] Chr19:50910591 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2443_2444delinsCT (p.Ser815Leu) | indel | Colorectal cancer, susceptibility to, 10 [RCV000689031] | Chr19:50414869..50414870 [GRCh38] Chr19:50918126..50918127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2166del (p.Phe723fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000691829] | Chr19:50413434 [GRCh38] Chr19:50916691 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2800G>A (p.Ala934Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000703397]|Hereditary cancer-predisposing syndrome [RCV002440524] | Chr19:50415806 [GRCh38] Chr19:50919063 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1732G>A (p.Gly578Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000706047]|Hereditary cancer-predisposing syndrome [RCV003165916] | Chr19:50407372 [GRCh38] Chr19:50910629 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.73G>A (p.Asp25Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000685631] | Chr19:50398924 [GRCh38] Chr19:50902181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2228A>C (p.Asn743Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000699851] | Chr19:50413499 [GRCh38] Chr19:50916756 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1774G>C (p.Gly592Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000689394] | Chr19:50407414 [GRCh38] Chr19:50910671 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1841A>G (p.His614Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000706306]|Hereditary cancer-predisposing syndrome [RCV003165922] | Chr19:50408850 [GRCh38] Chr19:50912107 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3052G>A (p.Val1018Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000689470] | Chr19:50416708 [GRCh38] Chr19:50919965 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.325C>G (p.Gln109Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000689476]|not provided [RCV001527351] | Chr19:50401786 [GRCh38] Chr19:50905043 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.439T>G (p.Tyr147Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701039] | Chr19:50401900 [GRCh38] Chr19:50905157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-2A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700894] | Chr19:50416608 [GRCh38] Chr19:50919865 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3257G>T (p.Arg1086Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686677]|Hereditary cancer-predisposing syndrome [RCV002325362] | Chr19:50417880 [GRCh38] Chr19:50921137 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1907A>G (p.Gln636Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000689612] | Chr19:50409136 [GRCh38] Chr19:50912393 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2351G>A (p.Gly784Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000692585] | Chr19:50413842 [GRCh38] Chr19:50917099 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1669T>G (p.Ser557Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000697964] | Chr19:50407157 [GRCh38] Chr19:50910414 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000697219]|not provided [RCV000759932] | Chr19:50406400 [GRCh38] Chr19:50909657 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.364G>A (p.Val122Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000697299]|Colorectal cancer, susceptibility to, 10 [RCV002485697]|Inborn genetic diseases [RCV002533482]|not provided [RCV002260661] | Chr19:50401825 [GRCh38] Chr19:50905082 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2779A>C (p.Ile927Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000703876]|Hereditary cancer-predisposing syndrome [RCV003165898] | Chr19:50415785 [GRCh38] Chr19:50919042 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990245]|Familial colorectal cancer [RCV000709577]|not provided [RCV001551206] | Chr19:50399040 [GRCh38] Chr19:50902297 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-2A>G | single nucleotide variant | Familial colorectal cancer [RCV000709586] | Chr19:50407325 [GRCh38] Chr19:50910582 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) | single nucleotide variant | Familial colorectal cancer [RCV000709590]|Hereditary cancer-predisposing syndrome [RCV002440561] | Chr19:50416449 [GRCh38] Chr19:50919706 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2459C>T (p.Ala820Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687459]|Hereditary cancer-predisposing syndrome [RCV003372805] | Chr19:50414885 [GRCh38] Chr19:50918142 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3140T>C (p.Leu1047Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000704000] | Chr19:50417191 [GRCh38] Chr19:50920448 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2021T>C (p.Leu674Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000704052] | Chr19:50409533 [GRCh38] Chr19:50912790 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000689867]|not provided [RCV003227828] | Chr19:50416486 [GRCh38] Chr19:50919743 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.3237C>A (p.Phe1079Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000706845]|Hereditary cancer-predisposing syndrome [RCV002325435] | Chr19:50417860 [GRCh38] Chr19:50921117 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.810_811inv (p.Gly271Arg) | inversion | Colorectal cancer, susceptibility to, 10 [RCV000685829] | Chr19:50402505..50402506 [GRCh38] Chr19:50905762..50905763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2428_2440dup (p.Phe814fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000688942] | Chr19:50414853..50414854 [GRCh38] Chr19:50918110..50918111 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2317dup (p.Ala773fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000703918] | Chr19:50413806..50413807 [GRCh38] Chr19:50917063..50917064 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1226G>C (p.Arg409Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702054]|Hereditary cancer-predisposing syndrome [RCV001010431]|not specified [RCV003387914] | Chr19:50403581 [GRCh38] Chr19:50906838 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2807A>C (p.Tyr936Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690017]|Hereditary cancer-predisposing syndrome [RCV003163140] | Chr19:50415813 [GRCh38] Chr19:50919070 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.537G>T (p.Gly179=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000692874]|Hereditary cancer-predisposing syndrome [RCV002343468] | Chr19:50402072 [GRCh38] Chr19:50905329 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2953C>G (p.Arg985Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000701967] | Chr19:50416528 [GRCh38] Chr19:50919785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2115C>T (p.Gly705=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693144]|Hereditary cancer-predisposing syndrome [RCV002422505]|not provided [RCV000827334]|not specified [RCV002268253] | Chr19:50409627 [GRCh38] Chr19:50912884 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2236A>G (p.Ser746Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687976] | Chr19:50413507 [GRCh38] Chr19:50916764 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687981]|Hereditary cancer-predisposing syndrome [RCV001018711] | Chr19:50417170 [GRCh38] Chr19:50920427 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2795G>C (p.Gly932Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690449] | Chr19:50415801 [GRCh38] Chr19:50919058 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1945A>C (p.Thr649Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693244]|Hereditary cancer-predisposing syndrome [RCV002406581] | Chr19:50409174 [GRCh38] Chr19:50912431 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1469A>G (p.Gln490Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000695440] | Chr19:50406492 [GRCh38] Chr19:50909749 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892G>A (p.Gly631Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000702615] | Chr19:50408901 [GRCh38] Chr19:50912158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2033C>T (p.Thr678Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000690527]|Hereditary cancer-predisposing syndrome [RCV003163148] | Chr19:50409545 [GRCh38] Chr19:50912802 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2545C>T (p.Arg849Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000704716]|not provided [RCV000759949]|not specified [RCV002268264] | Chr19:50414971 [GRCh38] Chr19:50918228 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1682G>A (p.Arg561Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693424]|not provided [RCV001552583] | Chr19:50407170 [GRCh38] Chr19:50910427 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776G>A (p.Gly592=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000695744] | Chr19:50408785 [GRCh38] Chr19:50912042 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000695813]|Colorectal cancer, susceptibility to, 10 [RCV000764226]|Inborn genetic diseases [RCV002532332] | Chr19:50413468 [GRCh38] Chr19:50916725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1108A>C (p.Ser370Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000704984]|Hereditary cancer-predisposing syndrome [RCV002458306] | Chr19:50403190 [GRCh38] Chr19:50906447 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.311A>C (p.Tyr104Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693806] | Chr19:50399479 [GRCh38] Chr19:50902736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1267C>T (p.Arg423Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000695850] | Chr19:50406206 [GRCh38] Chr19:50909463 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.781G>A (p.Val261Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000695942]|Hereditary cancer-predisposing syndrome [RCV003163198]|not provided [RCV000759966] | Chr19:50402476 [GRCh38] Chr19:50905733 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2691G>C (p.Lys897Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000688789] | Chr19:50415564 [GRCh38] Chr19:50918821 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.304G>A (p.Asp102Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000705164] | Chr19:50399472 [GRCh38] Chr19:50902729 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-7C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693915] | Chr19:50416603 [GRCh38] Chr19:50919860 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3292C>T (p.Arg1098Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000693951]|Hereditary cancer-predisposing syndrome [RCV002442456] | Chr19:50417915 [GRCh38] Chr19:50921172 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3160C>T (p.Leu1054Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000696061]|Hereditary cancer-predisposing syndrome [RCV002325395] | Chr19:50417211 [GRCh38] Chr19:50920468 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.964C>G (p.Arg322Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000703205]|Hereditary cancer-predisposing syndrome [RCV002369944] | Chr19:50402735 [GRCh38] Chr19:50905992 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2932_2934del (p.Arg978del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000691283] | Chr19:50416507..50416509 [GRCh38] Chr19:50919764..50919766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2318C>T (p.Ala773Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000696340]|Hereditary cancer-predisposing syndrome [RCV002442473]|not provided [RCV000985927] | Chr19:50413809 [GRCh38] Chr19:50917066 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.260T>C (p.Leu87Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000684862] | Chr19:50399428 [GRCh38] Chr19:50902685 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2624G>A (p.Arg875His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000685049]|not provided [RCV003736886]|not specified [RCV002465752] | Chr19:50415497 [GRCh38] Chr19:50918754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50398846)_(50403603_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000708118] | Chr19:50398846..50403603 [GRCh38] Chr19:50902103..50906860 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.307C>T (p.His103Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000696523] | Chr19:50399475 [GRCh38] Chr19:50902732 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.721T>G (p.Phe241Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000698450]|Hereditary cancer-predisposing syndrome [RCV002369906] | Chr19:50402336 [GRCh38] Chr19:50905593 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1327C>G (p.Arg443Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000705680] | Chr19:50406266 [GRCh38] Chr19:50909523 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1889_1890del (p.Leu630fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000705722]|Hereditary cancer-predisposing syndrome [RCV002406646] | Chr19:50408898..50408899 [GRCh38] Chr19:50912155..50912156 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.695G>A (p.Arg232His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000685623]|not provided [RCV001561725] | Chr19:50402310 [GRCh38] Chr19:50905567 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.377G>A (p.Arg126His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000696758]|not provided [RCV003231589] | Chr19:50401838 [GRCh38] Chr19:50905095 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2656_2657delinsTT (p.Glu886Leu) | indel | Colorectal cancer, susceptibility to, 10 [RCV000686064] | Chr19:50415529..50415530 [GRCh38] Chr19:50918786..50918787 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2818G>A (p.Glu940Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000700517]|Hereditary cancer-predisposing syndrome [RCV002440505] | Chr19:50415824 [GRCh38] Chr19:50919081 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1429G>T (p.Val477Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000694483]|Hereditary cancer-predisposing syndrome [RCV002388255] | Chr19:50406452 [GRCh38] Chr19:50909709 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2594A>G (p.Gln865Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000696838]|Hereditary cancer-predisposing syndrome [RCV003163207] | Chr19:50415467 [GRCh38] Chr19:50918724 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.962del (p.Gly321fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000697002]|Hereditary cancer-predisposing syndrome [RCV002386219] | Chr19:50402732 [GRCh38] Chr19:50905989 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1774G>A (p.Gly592Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000686640]|Hereditary cancer-predisposing syndrome [RCV002397369] | Chr19:50407414 [GRCh38] Chr19:50910671 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2729G>A (p.Arg910Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000692006]|not provided [RCV003148829] | Chr19:50415735 [GRCh38] Chr19:50918992 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2626A>G (p.Ile876Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000706212]|Hereditary cancer-predisposing syndrome [RCV002424718] | Chr19:50415499 [GRCh38] Chr19:50918756 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.985C>T (p.Pro329Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000694627]|Hereditary cancer-predisposing syndrome [RCV001019809] | Chr19:50403067 [GRCh38] Chr19:50906324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2427C>A (p.Tyr809Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000687108]|Hereditary cancer-predisposing syndrome [RCV001015494] | Chr19:50414853 [GRCh38] Chr19:50918110 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.661G>C (p.Ala221Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000703696] | Chr19:50402276 [GRCh38] Chr19:50905533 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2686G>T (p.Gly896Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000689496] | Chr19:50415559 [GRCh38] Chr19:50918816 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.594G>A (p.Met198Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000706247] | Chr19:50402209 [GRCh38] Chr19:50905466 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-168C>G | single nucleotide variant | not provided [RCV001540966] | Chr19:50417674 [GRCh38] Chr19:50920931 [GRCh37] Chr19:19q13.33 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 | copy number gain | not provided [RCV000740208] | Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_002691.4(POLD1):c.3219-154C>A | single nucleotide variant | not provided [RCV001585565] | Chr19:50417688 [GRCh38] Chr19:50920945 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1400A>C (p.Tyr467Ser) | single nucleotide variant | not provided [RCV001284041] | Chr19:50406423 [GRCh38] Chr19:50909680 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1251A>G (p.Thr417=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001397152]|Hereditary cancer-predisposing syndrome [RCV002409238] | Chr19:50406190 [GRCh38] Chr19:50909447 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1845C>T (p.Asn615=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000980154]|Hereditary cancer-predisposing syndrome [RCV002409303] | Chr19:50408854 [GRCh38] Chr19:50912111 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-2+76A>G | single nucleotide variant | not provided [RCV001565354] | Chr19:50384466 [GRCh38] Chr19:50887723 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.138A>G (p.Ala46=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000938392]|Hereditary cancer-predisposing syndrome [RCV002390977] | Chr19:50398989 [GRCh38] Chr19:50902246 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001485741] | Chr19:50407424 [GRCh38] Chr19:50910681 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-156_3219-151del | deletion | not provided [RCV001583763] | Chr19:50417686..50417691 [GRCh38] Chr19:50920943..50920948 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.516C>T (p.Ile172=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000938649] | Chr19:50402051 [GRCh38] Chr19:50905308 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.129G>A (p.Glu43=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002067198]|not provided [RCV000759929] | Chr19:50398980 [GRCh38] Chr19:50902237 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.15G>A (p.Arg5=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397530]|not provided [RCV000759937] | Chr19:50398866 [GRCh38] Chr19:50902123 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1687-3C>T | single nucleotide variant | not provided [RCV000759941] | Chr19:50407324 [GRCh38] Chr19:50910581 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2541A>C (p.Ser847=) | single nucleotide variant | not provided [RCV000759948] | Chr19:50414967 [GRCh38] Chr19:50918224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.92C>T (p.Pro31Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001043038]|Hereditary cancer-predisposing syndrome [RCV002372775] | Chr19:50398943 [GRCh38] Chr19:50902200 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2231G>C (p.Gly744Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001046269] | Chr19:50413502 [GRCh38] Chr19:50916759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.768G>A (p.Val256=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001065819] | Chr19:50402463 [GRCh38] Chr19:50905720 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2840A>G (p.Glu947Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001044148]|Hereditary cancer-predisposing syndrome [RCV003372953] | Chr19:50416415 [GRCh38] Chr19:50919672 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.50384125G>A | single nucleotide variant | not provided [RCV001565913] | Chr19:50384125 [GRCh38] Chr19:50887382 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-164_3219-161del | deletion | not provided [RCV001577774] | Chr19:50417672..50417675 [GRCh38] Chr19:50920929..50920932 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2005A>G (p.Arg669Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001066863] | Chr19:50409234 [GRCh38] Chr19:50912491 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+333dup | duplication | not provided [RCV001547428] | Chr19:50407725..50407726 [GRCh38] Chr19:50910982..50910983 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-2A>T | single nucleotide variant | not provided [RCV000786801] | Chr19:50414813 [GRCh38] Chr19:50918070 [GRCh37] Chr19:19q13.33 |
not provided |
NM_002691.4(POLD1):c.1494+4C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001067662] | Chr19:50406521 [GRCh38] Chr19:50909778 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.462T>C (p.Pro154=) | single nucleotide variant | not provided [RCV000985939] | Chr19:50401923 [GRCh38] Chr19:50905180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2006+9T>C | single nucleotide variant | not provided [RCV000942589] | Chr19:50409244 [GRCh38] Chr19:50912501 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2184C>T (p.Ile728=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000883159]|Hereditary cancer-predisposing syndrome [RCV002427237] | Chr19:50413455 [GRCh38] Chr19:50916712 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1767C>T (p.Pro589=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001455076]|Hereditary cancer-predisposing syndrome [RCV002400102] | Chr19:50407407 [GRCh38] Chr19:50910664 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1023C>T (p.Gly341=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000877424] | Chr19:50403105 [GRCh38] Chr19:50906362 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.702A>G (p.Ala234=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001490560]|Hereditary cancer-predisposing syndrome [RCV002363384] | Chr19:50402317 [GRCh38] Chr19:50905574 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.522G>C (p.Arg174=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000868828]|Hereditary cancer-predisposing syndrome [RCV002336801]|not provided [RCV001759654] | Chr19:50402057 [GRCh38] Chr19:50905314 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3130C>T (p.Leu1044=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000922836]|Hereditary cancer-predisposing syndrome [RCV003307691] | Chr19:50417181 [GRCh38] Chr19:50920438 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001410343] | Chr19:50417833 [GRCh38] Chr19:50921090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2163G>T (p.Thr721=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001421635]|Hereditary cancer-predisposing syndrome [RCV002416210] | Chr19:50413434 [GRCh38] Chr19:50916691 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2943T>C (p.Ala981=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000944967] | Chr19:50416518 [GRCh38] Chr19:50919775 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1665C>A (p.Val555=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000943700] | Chr19:50407153 [GRCh38] Chr19:50910410 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+7C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001444528] | Chr19:50402748 [GRCh38] Chr19:50906005 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2049C>T (p.Arg683=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001498416]|Hereditary cancer-predisposing syndrome [RCV002416150] | Chr19:50409561 [GRCh38] Chr19:50912818 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.148C>T (p.Leu50=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000914451]|Hereditary cancer-predisposing syndrome [RCV002390904] | Chr19:50398999 [GRCh38] Chr19:50902256 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.456G>C (p.Ala152=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000941941]|Hereditary cancer-predisposing syndrome [RCV002336982] | Chr19:50401917 [GRCh38] Chr19:50905174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1239C>T (p.Leu413=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000944017]|Hereditary cancer-predisposing syndrome [RCV002372637] | Chr19:50403594 [GRCh38] Chr19:50906851 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000981232] | Chr19:50414810 [GRCh38] Chr19:50918067 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000925085] | Chr19:50406398 [GRCh38] Chr19:50909655 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1416C>T (p.Tyr472=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000876210]|Hereditary cancer-predisposing syndrome [RCV001011461]|not provided [RCV003478564] | Chr19:50406439 [GRCh38] Chr19:50909696 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2778C>T (p.Ile926=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000976093] | Chr19:50415784 [GRCh38] Chr19:50919041 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+7G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001411764] | Chr19:50406524 [GRCh38] Chr19:50909781 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1308C>T (p.Phe436=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001391877] | Chr19:50406247 [GRCh38] Chr19:50909504 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1935G>A (p.Glu645=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001430927]|Hereditary cancer-predisposing syndrome [RCV002409250] | Chr19:50409164 [GRCh38] Chr19:50912421 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001436308] | Chr19:50415598 [GRCh38] Chr19:50918855 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1029C>A (p.Arg343=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000915798]|Hereditary cancer-predisposing syndrome [RCV003279152]|not provided [RCV001759668] | Chr19:50403111 [GRCh38] Chr19:50906368 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1575G>C (p.Arg525=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000883014]|Hereditary cancer-predisposing syndrome [RCV002390860] | Chr19:50407063 [GRCh38] Chr19:50910320 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000876992] | Chr19:50415429 [GRCh38] Chr19:50918686 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2595G>A (p.Gln865=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001431922] | Chr19:50415468 [GRCh38] Chr19:50918725 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.558C>A (p.Ala186=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001464449] | Chr19:50402093 [GRCh38] Chr19:50905350 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.138A>C (p.Ala46=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001483341] | Chr19:50398989 [GRCh38] Chr19:50902246 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.909A>G (p.Pro303=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000950992]|Hereditary cancer-predisposing syndrome [RCV002372650] | Chr19:50402680 [GRCh38] Chr19:50905937 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820+7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001501892] | Chr19:50415833 [GRCh38] Chr19:50919090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2097C>T (p.Ser699=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000877266]|Hereditary cancer-predisposing syndrome [RCV002258023]|not provided [RCV001527847] | Chr19:50409609 [GRCh38] Chr19:50912866 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+8C>T | single nucleotide variant | not provided [RCV000982291] | Chr19:50409243 [GRCh38] Chr19:50912500 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1630A>G (p.Ser544Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051341]|Hereditary cancer-predisposing syndrome [RCV003160402] | Chr19:50407118 [GRCh38] Chr19:50910375 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2954G>T (p.Arg985Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001055106]|Hereditary cancer-predisposing syndrome [RCV002436617] | Chr19:50416610 [GRCh38] Chr19:50919867 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.969A>T (p.Lys323Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019630] | Chr19:50402740 [GRCh38] Chr19:50905997 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2853dup (p.Ile952fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001051574] | Chr19:50416425..50416426 [GRCh38] Chr19:50919682..50919683 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1412C>T (p.Ser471Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001053024] | Chr19:50406435 [GRCh38] Chr19:50909692 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1532A>T (p.Tyr511Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001061512] | Chr19:50407020 [GRCh38] Chr19:50910277 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.102C>A (p.Phe34Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000817893]|not provided [RCV000759209] | Chr19:50398953 [GRCh38] Chr19:50902210 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1350C>A (p.Ser450Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001041708] | Chr19:50406289 [GRCh38] Chr19:50909546 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.421A>T (p.Ile141Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001041778] | Chr19:50401882 [GRCh38] Chr19:50905139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1435T>G (p.Phe479Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001061912] | Chr19:50406458 [GRCh38] Chr19:50909715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1550A>G (p.Tyr517Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001056202]|Hereditary cancer-predisposing syndrome [RCV002400320] | Chr19:50407038 [GRCh38] Chr19:50910295 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.461C>G (p.Pro154Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001056359] | Chr19:50401922 [GRCh38] Chr19:50905179 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1499G>A (p.Gly500Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001058737] | Chr19:50406987 [GRCh38] Chr19:50910244 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.244C>T (p.Pro82Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001062040]|not provided [RCV001772286] | Chr19:50399412 [GRCh38] Chr19:50902669 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1685A>G (p.Gln562Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001039370] | Chr19:50407173 [GRCh38] Chr19:50910430 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1789C>T (p.Pro597Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001058916]|not provided [RCV001772278] | Chr19:50408798 [GRCh38] Chr19:50912055 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.811G>A (p.Gly271Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001037485]|not specified [RCV001819741] | Chr19:50402506 [GRCh38] Chr19:50905763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001037890] | Chr19:50402543 [GRCh38] Chr19:50905800 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1468C>T (p.Gln490Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001053682] | Chr19:50406491 [GRCh38] Chr19:50909748 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2323G>C (p.Gly775Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001056744] | Chr19:50413814 [GRCh38] Chr19:50917071 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.100T>A (p.Phe34Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001038467] | Chr19:50398951 [GRCh38] Chr19:50902208 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2213A>G (p.Lys738Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001057105] | Chr19:50413484 [GRCh38] Chr19:50916741 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2518del (p.Val840fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001059464] | Chr19:50414944 [GRCh38] Chr19:50918201 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.719G>A (p.Ser240Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001072001]|Hereditary cancer-predisposing syndrome [RCV002375007] | Chr19:50402334 [GRCh38] Chr19:50905591 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3029A>G (p.Asn1010Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001059880] | Chr19:50416685 [GRCh38] Chr19:50919942 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.687G>C (p.Gln229His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051999]|POLD1-related condition [RCV003393814]|not provided [RCV003442175] | Chr19:50402302 [GRCh38] Chr19:50905559 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1914C>G (p.Ile638Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001047219]|Hereditary cancer-predisposing syndrome [RCV002409413] | Chr19:50409143 [GRCh38] Chr19:50912400 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.705C>T (p.Gly235=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001060063] | Chr19:50402320 [GRCh38] Chr19:50905577 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1153A>C (p.Ile385Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001052502] | Chr19:50403508 [GRCh38] Chr19:50906765 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.89G>T (p.Arg30Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001070665]|Hereditary cancer-predisposing syndrome [RCV002374995] | Chr19:50398940 [GRCh38] Chr19:50902197 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.43_44insTTG (p.Pro15delinsLeuAla) | insertion | Colorectal cancer, susceptibility to, 10 [RCV001050788]|Hereditary cancer-predisposing syndrome [RCV002327302] | Chr19:50398894..50398895 [GRCh38] Chr19:50902151..50902152 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2470A>T (p.Met824Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001050846]|Hereditary cancer-predisposing syndrome [RCV003307855] | Chr19:50414896 [GRCh38] Chr19:50918153 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.883G>T (p.Val295Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001050914] | Chr19:50402654 [GRCh38] Chr19:50905911 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1205A>T (p.Asp402Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001061010] | Chr19:50403560 [GRCh38] Chr19:50906817 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202+6G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000793668]|not provided [RCV000841332] | Chr19:50399059 [GRCh38] Chr19:50902316 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NC_000019.10:g.50417838G>A | single nucleotide variant | not provided [RCV000828251] | Chr19:50921095 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1978C>A (p.Leu660Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807701] | Chr19:50409207 [GRCh38] Chr19:50912464 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051386]|Hereditary cancer-predisposing syndrome [RCV002440586]|not provided [RCV000759239]|not specified [RCV003479213] | Chr19:50416628 [GRCh38] Chr19:50919885 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525961]|Hereditary cancer-predisposing syndrome [RCV002397528]|not provided [RCV000759218] | Chr19:50408781 [GRCh38] Chr19:50912038 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1934A>G (p.Glu645Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000808108]|Hereditary cancer-predisposing syndrome [RCV002406806] | Chr19:50409163 [GRCh38] Chr19:50912420 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3158G>A (p.Arg1053His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000809272]|Hereditary cancer-predisposing syndrome [RCV003307497] | Chr19:50417209 [GRCh38] Chr19:50920466 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3220C>T (p.Arg1074Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000809421]|not provided [RCV001759558] | Chr19:50417843 [GRCh38] Chr19:50921100 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.478C>T (p.His160Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000809880] | Chr19:50402013 [GRCh38] Chr19:50905270 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+10A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001447064] | Chr19:50417279 [GRCh38] Chr19:50920536 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1564C>T (p.Leu522=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001403338]|Hereditary cancer-predisposing syndrome [RCV001012140] | Chr19:50407052 [GRCh38] Chr19:50910309 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2748C>A (p.Pro916=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000873381]|Hereditary cancer-predisposing syndrome [RCV002256576] | Chr19:50415754 [GRCh38] Chr19:50919011 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2742T>C (p.Ser914=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001477377]|Hereditary cancer-predisposing syndrome [RCV002434304] | Chr19:50415748 [GRCh38] Chr19:50919005 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2808C>T (p.Tyr936=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000942591]|Hereditary cancer-predisposing syndrome [RCV002434298] | Chr19:50415814 [GRCh38] Chr19:50919071 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1056C>T (p.Arg352=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001462278]|Hereditary cancer-predisposing syndrome [RCV002400152] | Chr19:50403138 [GRCh38] Chr19:50906395 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2898C>T (p.Leu966=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001432815]|Hereditary cancer-predisposing syndrome [RCV002434268] | Chr19:50416473 [GRCh38] Chr19:50919730 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.402G>T (p.Gly134=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000980671]|Hereditary cancer-predisposing syndrome [RCV002354882]|POLD1-related condition [RCV003928619] | Chr19:50401863 [GRCh38] Chr19:50905120 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-8C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000864454] | Chr19:50401770 [GRCh38] Chr19:50905027 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.924G>A (p.Ala308=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000864455]|Hereditary cancer-predisposing syndrome [RCV002372414] | Chr19:50402695 [GRCh38] Chr19:50905952 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001439521] | Chr19:50415432 [GRCh38] Chr19:50918689 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2571T>G (p.Pro857=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000978263]|Hereditary cancer-predisposing syndrome [RCV002454215]|POLD1-related condition [RCV003897979] | Chr19:50415444 [GRCh38] Chr19:50918701 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3300A>G (p.Gly1100=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001494758]|Hereditary cancer-predisposing syndrome [RCV002320173] | Chr19:50417923 [GRCh38] Chr19:50921180 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-7T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000864609]|not provided [RCV001800897] | Chr19:50406976 [GRCh38] Chr19:50910233 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1816C>T (p.Leu606=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000942368]|Hereditary cancer-predisposing syndrome [RCV002409243] | Chr19:50408825 [GRCh38] Chr19:50912082 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2331G>A (p.Glu777=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000920338]|Hereditary cancer-predisposing syndrome [RCV002454098] | Chr19:50413822 [GRCh38] Chr19:50917079 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2514C>T (p.Pro838=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000940274]|Hereditary cancer-predisposing syndrome [RCV002427354] | Chr19:50414940 [GRCh38] Chr19:50918197 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2611C>T (p.Leu871=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000941821] | Chr19:50415484 [GRCh38] Chr19:50918741 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.981T>C (p.Pro327=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001484800] | Chr19:50403063 [GRCh38] Chr19:50906320 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001398462] | Chr19:50417164 [GRCh38] Chr19:50920421 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002066482] | Chr19:50408910 [GRCh38] Chr19:50912167 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-7A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001428809] | Chr19:50409115 [GRCh38] Chr19:50912372 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1011C>T (p.Ile337=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000882922]|Hereditary cancer-predisposing syndrome [RCV002320063] | Chr19:50403093 [GRCh38] Chr19:50906350 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001464982] | Chr19:50401932 [GRCh38] Chr19:50905189 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2790C>T (p.Ala930=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001431896]|Hereditary cancer-predisposing syndrome [RCV002434214] | Chr19:50415796 [GRCh38] Chr19:50919053 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+7C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001497507] | Chr19:50415597 [GRCh38] Chr19:50918854 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3265C>T (p.Leu1089=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001474686]|Hereditary cancer-predisposing syndrome [RCV002320136] | Chr19:50417888 [GRCh38] Chr19:50921145 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1989G>T (p.Leu663=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001446194] | Chr19:50409218 [GRCh38] Chr19:50912475 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1681C>A (p.Arg561=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001506691]|Colorectal cancer, susceptibility to, 10 [RCV002488003]|Hereditary cancer-predisposing syndrome [RCV002400023] | Chr19:50407169 [GRCh38] Chr19:50910426 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1800C>T (p.Thr600=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000981284] | Chr19:50408809 [GRCh38] Chr19:50912066 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.285C>T (p.Ile95=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000927558] | Chr19:50399453 [GRCh38] Chr19:50902710 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.603C>T (p.Tyr201=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000941203]|Hereditary cancer-predisposing syndrome [RCV002354820] | Chr19:50402218 [GRCh38] Chr19:50905475 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000875008] | Chr19:50416601 [GRCh38] Chr19:50919858 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.525C>T (p.Asp175=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001504954]|Hereditary cancer-predisposing syndrome [RCV002334422]|not provided [RCV000759243] | Chr19:50402060 [GRCh38] Chr19:50905317 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.615C>G (p.Gly205=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640940]|not provided [RCV000759245] | Chr19:50402230 [GRCh38] Chr19:50905487 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1243-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001087734]|not provided [RCV000869525] | Chr19:50406176 [GRCh38] Chr19:50909433 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.366_371delinsAG (p.Pro123fs) | indel | Colorectal cancer, susceptibility to, 10 [RCV000802524] | Chr19:50401827..50401832 [GRCh38] Chr19:50905084..50905089 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2280G>A (p.Met760Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000797379] | Chr19:50413771 [GRCh38] Chr19:50917028 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2455G>C (p.Asp819His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000815651] | Chr19:50414881 [GRCh38] Chr19:50918138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.716C>A (p.Pro239His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000817268]|not provided [RCV003332264] | Chr19:50402331 [GRCh38] Chr19:50905588 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1174G>T (p.Val392Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000820919]|Hereditary cancer-predisposing syndrome [RCV002332705] | Chr19:50403529 [GRCh38] Chr19:50906786 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001441353]|Hereditary cancer-predisposing syndrome [RCV002320182] | Chr19:50403488 [GRCh38] Chr19:50906745 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000797544]|not specified [RCV002249513] | Chr19:50406515 [GRCh38] Chr19:50909772 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1954C>T (p.Arg652Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000815796] | Chr19:50409183 [GRCh38] Chr19:50912440 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-195C>A | single nucleotide variant | not provided [RCV000839493] | Chr19:50408590 [GRCh38] Chr19:50911847 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.272C>G (p.Thr91Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000796906] | Chr19:50399440 [GRCh38] Chr19:50902697 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.315G>A (p.Val105=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000814284] | Chr19:50399483 [GRCh38] Chr19:50902740 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-44A>G | single nucleotide variant | not provided [RCV000835948]|not specified [RCV002268319] | Chr19:50406939 [GRCh38] Chr19:50910196 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1597G>C (p.Val533Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000804751] | Chr19:50407085 [GRCh38] Chr19:50910342 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+6G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000804793] | Chr19:50416534 [GRCh38] Chr19:50919791 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1916G>A (p.Arg639Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000821225] | Chr19:50409145 [GRCh38] Chr19:50912402 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2048G>T (p.Arg683Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000797305]|Hereditary cancer-predisposing syndrome [RCV003166153] | Chr19:50409560 [GRCh38] Chr19:50912817 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2498G>T (p.Arg833Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816119] | Chr19:50414924 [GRCh38] Chr19:50918181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+120T>C | single nucleotide variant | not provided [RCV000835990] | Chr19:50416843 [GRCh38] Chr19:50920100 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3218+32C>T | single nucleotide variant | not provided [RCV000835991]|not specified [RCV002268325] | Chr19:50417301 [GRCh38] Chr19:50920558 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.590-40C>T | single nucleotide variant | not provided [RCV000835994]|not specified [RCV002268326] | Chr19:50402165 [GRCh38] Chr19:50905422 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-29C>T | single nucleotide variant | not provided [RCV000835998]|not specified [RCV002268327] | Chr19:50416581 [GRCh38] Chr19:50919838 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.759-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000801291] | Chr19:50402448 [GRCh38] Chr19:50905705 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.58G>A (p.Gly20Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000801314] | Chr19:50398909 [GRCh38] Chr19:50902166 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1756G>A (p.Val586Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000823618]|not specified [RCV001816910] | Chr19:50407396 [GRCh38] Chr19:50910653 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.50402377C>G | single nucleotide variant | not provided [RCV000842312] | Chr19:50905634 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+9G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000958379] | Chr19:50406331 [GRCh38] Chr19:50909588 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1185T>C (p.Gly395=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068551]|Hereditary cancer-predisposing syndrome [RCV002336737]|not provided [RCV000833232] | Chr19:50403540 [GRCh38] Chr19:50906797 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+1_1242+8del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000799721] | Chr19:50403598..50403605 [GRCh38] Chr19:50906855..50906862 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202+41G>A | single nucleotide variant | not provided [RCV000836095]|not specified [RCV002268329] | Chr19:50399094 [GRCh38] Chr19:50902351 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.971-35C>T | single nucleotide variant | not provided [RCV000836096]|not specified [RCV002465796] | Chr19:50403018 [GRCh38] Chr19:50906275 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1137+34G>A | single nucleotide variant | not provided [RCV000836097] | Chr19:50403253 [GRCh38] Chr19:50906510 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-48C>G | single nucleotide variant | not provided [RCV000836102]|not specified [RCV002268330] | Chr19:50416348 [GRCh38] Chr19:50919605 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1693C>T (p.His565Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000823862]|Hereditary cancer-predisposing syndrome [RCV002397740] | Chr19:50407333 [GRCh38] Chr19:50910590 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-154C>A | single nucleotide variant | not provided [RCV000842562] | Chr19:50416891 [GRCh38] Chr19:50920148 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1811C>T (p.Ser604Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816351] | Chr19:50408820 [GRCh38] Chr19:50912077 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+4T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000801529]|Hereditary cancer-predisposing syndrome [RCV001019295] | Chr19:50417273 [GRCh38] Chr19:50920530 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.928T>G (p.Leu310Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000819746]|Hereditary cancer-predisposing syndrome [RCV002372333]|not provided [RCV001824385] | Chr19:50402699 [GRCh38] Chr19:50905956 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2671G>A (p.Ala891Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000791465] | Chr19:50415544 [GRCh38] Chr19:50918801 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3322T>A (p.Ter1108Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000791936] | Chr19:50417945 [GRCh38] Chr19:50921202 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1501A>C (p.Asn501His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000819825]|Hereditary cancer-predisposing syndrome [RCV002390685] | Chr19:50406989 [GRCh38] Chr19:50910246 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2400A>G (p.Pro800=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807032] | Chr19:50414826 [GRCh38] Chr19:50918083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2122G>C (p.Val708Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000791486] | Chr19:50409634 [GRCh38] Chr19:50912891 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.955T>G (p.Cys319Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807906]|Hereditary cancer-predisposing syndrome [RCV001019485] | Chr19:50402726 [GRCh38] Chr19:50905983 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2973C>T (p.Cys991=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000803539]|Hereditary cancer-predisposing syndrome [RCV002440695] | Chr19:50416629 [GRCh38] Chr19:50919886 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2155-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000819966] | Chr19:50413420 [GRCh38] Chr19:50916677 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1328G>A (p.Arg443Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000810930] | Chr19:50406267 [GRCh38] Chr19:50909524 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2939A>G (p.Glu980Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000814872] | Chr19:50416514 [GRCh38] Chr19:50919771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3079G>A (p.Glu1027Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000811992]|Hereditary cancer-predisposing syndrome [RCV002319586] | Chr19:50417056 [GRCh38] Chr19:50920313 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2595G>T (p.Gln865His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000802018] | Chr19:50415468 [GRCh38] Chr19:50918725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2956G>A (p.Gly986Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000820164] | Chr19:50416612 [GRCh38] Chr19:50919869 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2136G>T (p.Pro712=) | single nucleotide variant | not provided [RCV000840506] | Chr19:50409648 [GRCh38] Chr19:50912905 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000822009] | Chr19:50406981 [GRCh38] Chr19:50910238 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1440C>T (p.His480=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000871499]|Hereditary cancer-predisposing syndrome [RCV002390819] | Chr19:50406463 [GRCh38] Chr19:50909720 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2697C>T (p.Ala899=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000976828]|Hereditary cancer-predisposing syndrome [RCV002454210] | Chr19:50415570 [GRCh38] Chr19:50918827 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2890_2910del (p.Lys964_Phe970del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000791688] | Chr19:50416464..50416484 [GRCh38] Chr19:50919721..50919741 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.218C>T (p.Ser73Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000791682]|not provided [RCV003238215] | Chr19:50399386 [GRCh38] Chr19:50902643 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+4_589+7del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000793691] | Chr19:50402123..50402126 [GRCh38] Chr19:50905380..50905383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1772A>G (p.Lys591Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816866] | Chr19:50407412 [GRCh38] Chr19:50910669 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.225A>G (p.Ile75Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000808554] | Chr19:50399393 [GRCh38] Chr19:50902650 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759G>A (p.Arg253=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000796218] | Chr19:50402454 [GRCh38] Chr19:50905711 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2047C>T (p.Arg683Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000796355]|not provided [RCV003325518] | Chr19:50409559 [GRCh38] Chr19:50912816 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.805C>G (p.Pro269Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000809138]|not provided [RCV002537305] | Chr19:50402500 [GRCh38] Chr19:50905757 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.113T>A (p.Leu38Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000815284]|Hereditary cancer-predisposing syndrome [RCV002453852] | Chr19:50398964 [GRCh38] Chr19:50902221 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2312C>T (p.Ala771Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000798915]|Inborn genetic diseases [RCV002537104]|not provided [RCV003227862] | Chr19:50413803 [GRCh38] Chr19:50917060 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3086G>A (p.Cys1029Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000815348] | Chr19:50417063 [GRCh38] Chr19:50920320 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1927G>A (p.Gly643Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816972]|not provided [RCV001597219] | Chr19:50409156 [GRCh38] Chr19:50912413 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1219A>G (p.Ile407Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000804039] | Chr19:50403574 [GRCh38] Chr19:50906831 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3314A>T (p.Glu1105Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805692]|Hereditary cancer-predisposing syndrome [RCV002325564] | Chr19:50417937 [GRCh38] Chr19:50921194 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.387G>A (p.Gly129=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001426567] | Chr19:50401848 [GRCh38] Chr19:50905105 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+43G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990259] | Chr19:50407217 [GRCh38] Chr19:50910474 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2427C>G (p.Tyr809Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000791972] | Chr19:50414853 [GRCh38] Chr19:50918110 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3163T>G (p.Trp1055Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000815402] | Chr19:50417214 [GRCh38] Chr19:50920471 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1225C>G (p.Arg409Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000820526]|Hereditary cancer-predisposing syndrome [RCV001010423] | Chr19:50403580 [GRCh38] Chr19:50906837 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2621A>G (p.Asn874Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805774]|Hereditary cancer-predisposing syndrome [RCV002440715] | Chr19:50415494 [GRCh38] Chr19:50918751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2316G>A (p.Met772Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805785]|POLD1-related condition [RCV003947996]|not provided [RCV001759541] | Chr19:50413807 [GRCh38] Chr19:50917064 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.526A>G (p.Ser176Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000808730]|Hereditary cancer-predisposing syndrome [RCV002345824] | Chr19:50402061 [GRCh38] Chr19:50905318 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2310G>C (p.Glu770Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000792886] | Chr19:50413801 [GRCh38] Chr19:50917058 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.841-9T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001501126]|not provided [RCV000840944] | Chr19:50402603 [GRCh38] Chr19:50905860 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1260C>T (p.Phe420=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000937689]|Hereditary cancer-predisposing syndrome [RCV001010596] | Chr19:50406199 [GRCh38] Chr19:50909456 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3096G>A (p.Arg1032=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001448144]|Hereditary cancer-predisposing syndrome [RCV002319940]|not provided [RCV000827537] | Chr19:50417073 [GRCh38] Chr19:50920330 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2914C>G (p.Pro972Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000809769] | Chr19:50416489 [GRCh38] Chr19:50919746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.577_578del (p.Cys193fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000795407] | Chr19:50402110..50402111 [GRCh38] Chr19:50905367..50905368 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3233TCT[1] (p.Phe1079del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000816005] | Chr19:50417856..50417858 [GRCh38] Chr19:50921113..50921115 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-6_203-5insG | insertion | Colorectal cancer, susceptibility to, 10 [RCV000799706] | Chr19:50399365..50399366 [GRCh38] Chr19:50902622..50902623 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.950T>C (p.Ile317Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000820132]|Hereditary cancer-predisposing syndrome [RCV002372338] | Chr19:50402721 [GRCh38] Chr19:50905978 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1951G>A (p.Val651Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816789] | Chr19:50409180 [GRCh38] Chr19:50912437 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3267G>T (p.Leu1089=) | single nucleotide variant | not provided [RCV000841361] | Chr19:50417890 [GRCh38] Chr19:50921147 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3125C>A (p.Ser1042Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816608]|Hereditary cancer-predisposing syndrome [RCV003166356] | Chr19:50417176 [GRCh38] Chr19:50920433 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.379G>A (p.Ala127Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000817253]|not provided [RCV003222144] | Chr19:50401840 [GRCh38] Chr19:50905097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000820365]|Hereditary cancer-predisposing syndrome [RCV002381863] | Chr19:50406323 [GRCh38] Chr19:50909580 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1883A>G (p.Gln628Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000820423]|Hereditary cancer-predisposing syndrome [RCV002408975] | Chr19:50408892 [GRCh38] Chr19:50912149 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3257G>C (p.Arg1086Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000800961]|POLD1-related condition [RCV003411761] | Chr19:50417880 [GRCh38] Chr19:50921137 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2988G>C (p.Thr996=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001434066]|Hereditary cancer-predisposing syndrome [RCV002256558]|not provided [RCV000842060] | Chr19:50416644 [GRCh38] Chr19:50919901 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2293G>C (p.Val765Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000797350] | Chr19:50413784 [GRCh38] Chr19:50917041 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2788G>T (p.Ala930Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000813768] | Chr19:50415794 [GRCh38] Chr19:50919051 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.359del (p.Gly120fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000817543] | Chr19:50401819 [GRCh38] Chr19:50905076 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-34G>A | single nucleotide variant | not provided [RCV000835985]|not specified [RCV002268322] | Chr19:50406148 [GRCh38] Chr19:50909405 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1687-50C>T | single nucleotide variant | not provided [RCV000835986]|not specified [RCV002268323] | Chr19:50407277 [GRCh38] Chr19:50910534 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1687-46C>T | single nucleotide variant | not provided [RCV000835987]|not specified [RCV002268324] | Chr19:50407281 [GRCh38] Chr19:50910538 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2007-83G>A | single nucleotide variant | not provided [RCV000835988] | Chr19:50409436 [GRCh38] Chr19:50912693 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2155-112A>G | single nucleotide variant | not provided [RCV000835989] | Chr19:50413314 [GRCh38] Chr19:50916571 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.202+7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000823605] | Chr19:50399060 [GRCh38] Chr19:50902317 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1697A>C (p.Glu566Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000813922] | Chr19:50407337 [GRCh38] Chr19:50910594 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1714G>A (p.Val572Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807797] | Chr19:50407354 [GRCh38] Chr19:50910611 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+33G>A | single nucleotide variant | not provided [RCV000836108]|not specified [RCV002268331] | Chr19:50413554 [GRCh38] Chr19:50916811 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.202+72G>A | single nucleotide variant | not provided [RCV000836260] | Chr19:50399125 [GRCh38] Chr19:50902382 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.970+28C>T | single nucleotide variant | not provided [RCV000836261]|not specified [RCV002465797] | Chr19:50402769 [GRCh38] Chr19:50906026 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.970+100C>T | single nucleotide variant | not provided [RCV000836262] | Chr19:50402841 [GRCh38] Chr19:50906098 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2251-66C>A | single nucleotide variant | not provided [RCV000836264] | Chr19:50413676 [GRCh38] Chr19:50916933 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+97A>G | single nucleotide variant | not provided [RCV000836265] | Chr19:50415087 [GRCh38] Chr19:50918344 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2565-180G>A | single nucleotide variant | not provided [RCV000839500] | Chr19:50415258 [GRCh38] Chr19:50918515 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.316+4A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000804624] | Chr19:50399488 [GRCh38] Chr19:50902745 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-193C>A | single nucleotide variant | not provided [RCV000842577] | Chr19:50417649 [GRCh38] Chr19:50920906 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.594G>C (p.Met198Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000814184] | Chr19:50402209 [GRCh38] Chr19:50905466 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1248A>G (p.Gln416=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818133]|Hereditary cancer-predisposing syndrome [RCV001010553] | Chr19:50406187 [GRCh38] Chr19:50909444 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3219-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000821432]|not specified [RCV002268315] | Chr19:50417839 [GRCh38] Chr19:50921096 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2023G>T (p.Ala675Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000821446]|Hereditary cancer-predisposing syndrome [RCV002415931] | Chr19:50409535 [GRCh38] Chr19:50912792 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.997C>T (p.Pro333Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000824199]|Hereditary cancer-predisposing syndrome [RCV002381884]|not provided [RCV001800893] | Chr19:50403079 [GRCh38] Chr19:50906336 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.316+4A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000798284] | Chr19:50399488 [GRCh38] Chr19:50902745 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.894C>T (p.His298=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002549956]|Hereditary cancer-predisposing syndrome [RCV002445151]|not provided [RCV000996987] | Chr19:50402665 [GRCh38] Chr19:50905922 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2666G>C (p.Arg889Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000811130]|Hereditary cancer-predisposing syndrome [RCV002440751] | Chr19:50415539 [GRCh38] Chr19:50918796 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1348A>C (p.Ser450Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818744]|Hereditary cancer-predisposing syndrome [RCV002381850] | Chr19:50406287 [GRCh38] Chr19:50909544 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3056T>G (p.Leu1019Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000802538] | Chr19:50416712 [GRCh38] Chr19:50919969 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.720C>G (p.Ser240Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818983]|Hereditary cancer-predisposing syndrome [RCV002372328] | Chr19:50402335 [GRCh38] Chr19:50905592 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.664C>T (p.Pro222Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805770]|not specified [RCV003321746] | Chr19:50402279 [GRCh38] Chr19:50905536 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1204G>T (p.Asp402Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001860633]|Hereditary cancer-predisposing syndrome [RCV001010320] | Chr19:50403559 [GRCh38] Chr19:50906816 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1925_1929del (p.Thr642fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000794974] | Chr19:50409154..50409158 [GRCh38] Chr19:50912411..50912415 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3165G>A (p.Trp1055Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001043208]|Hereditary cancer-predisposing syndrome [RCV001018890] | Chr19:50417216 [GRCh38] Chr19:50920473 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.3(POLD1):c.-292C>G | single nucleotide variant | not provided [RCV000829773] | Chr19:50384100 [GRCh38] Chr19:50887357 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3302C>T (p.Pro1101Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000795238]|Hereditary cancer-predisposing syndrome [RCV002458425] | Chr19:50417925 [GRCh38] Chr19:50921182 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3137C>T (p.Ala1046Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000809978]|Hereditary cancer-predisposing syndrome [RCV003307499] | Chr19:50417188 [GRCh38] Chr19:50920445 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.371T>G (p.Val124Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000795460] | Chr19:50401832 [GRCh38] Chr19:50905089 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2423G>A (p.Arg808His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000811925]|not provided [RCV003233858] | Chr19:50414849 [GRCh38] Chr19:50918106 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2560G>C (p.Asp854His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001045538]|Hereditary cancer-predisposing syndrome [RCV002429608]|not provided [RCV001772246] | Chr19:50414986 [GRCh38] Chr19:50918243 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3245G>C (p.Arg1082Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000811933]|Hereditary cancer-predisposing syndrome [RCV002325585] | Chr19:50417868 [GRCh38] Chr19:50921125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2185G>C (p.Glu729Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000795702]|Hereditary cancer-predisposing syndrome [RCV003307437] | Chr19:50413456 [GRCh38] Chr19:50916713 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.145A>G (p.Arg49Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001067133] | Chr19:50398996 [GRCh38] Chr19:50902253 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.95C>A (p.Ser32Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000806489]|Hereditary cancer-predisposing syndrome [RCV002381777] | Chr19:50398946 [GRCh38] Chr19:50902203 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2331G>C (p.Glu777Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000795837] | Chr19:50413822 [GRCh38] Chr19:50917079 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.994G>A (p.Asp332Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001327316]|Hereditary cancer-predisposing syndrome [RCV001019942] | Chr19:50403076 [GRCh38] Chr19:50906333 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3155C>T (p.Ser1052Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000794007]|Hereditary cancer-predisposing syndrome [RCV002325505]|not provided [RCV003225121] | Chr19:50417206 [GRCh38] Chr19:50920463 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2972G>T (p.Cys991Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000807472] | Chr19:50416628 [GRCh38] Chr19:50919885 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3017C>T (p.Ala1006Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000812891]|Hereditary cancer-predisposing syndrome [RCV002440766] | Chr19:50416673 [GRCh38] Chr19:50919930 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1450G>A (p.Glu484Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000792057]|Hereditary cancer-predisposing syndrome [RCV001011653] | Chr19:50406473 [GRCh38] Chr19:50909730 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50920292)_(50920536_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000796130] | Chr19:50417035..50417279 [GRCh38] Chr19:50920292..50920536 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50401768)_(50402383_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000796796] | Chr19:50401768..50402383 [GRCh38] Chr19:50905025..50905640 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.233G>T (p.Arg78Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000792448]|Hereditary cancer-predisposing syndrome [RCV002458410] | Chr19:50399401 [GRCh38] Chr19:50902658 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2045G>T (p.Arg682Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000794938] | Chr19:50409557 [GRCh38] Chr19:50912814 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50398842)_(50399494_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000801974] | Chr19:50398842..50399494 [GRCh38] Chr19:50902099..50902751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1653G>A (p.Gln551=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001442683]|Hereditary cancer-predisposing syndrome [RCV002400073] | Chr19:50407141 [GRCh38] Chr19:50910398 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.538A>G (p.Arg180Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000798476] | Chr19:50402073 [GRCh38] Chr19:50905330 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202+2_202+4del | deletion | Colorectal cancer, susceptibility to, 10 [RCV000815018] | Chr19:50399055..50399057 [GRCh38] Chr19:50902312..50902314 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1621G>A (p.Val541Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818136]|Hereditary cancer-predisposing syndrome [RCV002397706] | Chr19:50407109 [GRCh38] Chr19:50910366 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2468G>A (p.Arg823His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818180]|not provided [RCV003128729] | Chr19:50414894 [GRCh38] Chr19:50918151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1618G>A (p.Gly540Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000824439] | Chr19:50407106 [GRCh38] Chr19:50910363 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1555C>T (p.Pro519Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000824460]|Hereditary cancer-predisposing syndrome [RCV003169061] | Chr19:50407043 [GRCh38] Chr19:50910300 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.36G>A (p.Gly12=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000939420]|Hereditary cancer-predisposing syndrome [RCV002346135]|not provided [RCV001766796] | Chr19:50398887 [GRCh38] Chr19:50902144 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.368C>T (p.Pro123Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000795990]|not provided [RCV000985938] | Chr19:50401829 [GRCh38] Chr19:50905086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.89G>A (p.Arg30Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818343]|Hereditary cancer-predisposing syndrome [RCV002372320] | Chr19:50398940 [GRCh38] Chr19:50902197 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1716G>A (p.Val572=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805276] | Chr19:50407356 [GRCh38] Chr19:50910613 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2346_2347dup (p.Ser783fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV000815252]|not provided [RCV001766713] | Chr19:50413834..50413835 [GRCh38] Chr19:50917091..50917092 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1723T>A (p.Ser575Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818517] | Chr19:50407363 [GRCh38] Chr19:50910620 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.152A>G (p.Gln51Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000805563] | Chr19:50399003 [GRCh38] Chr19:50902260 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1486G>A (p.Asp496Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000822065]|Hereditary cancer-predisposing syndrome [RCV001011823]|not provided [RCV003159167] | Chr19:50406509 [GRCh38] Chr19:50909766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.59G>C (p.Gly20Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000810647]|Hereditary cancer-predisposing syndrome [RCV002352408]|not provided [RCV003117603] | Chr19:50398910 [GRCh38] Chr19:50902167 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.419A>G (p.His140Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000794300]|Hereditary cancer-predisposing syndrome [RCV003380715] | Chr19:50401880 [GRCh38] Chr19:50905137 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.994G>T (p.Asp332Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000815516] | Chr19:50403076 [GRCh38] Chr19:50906333 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1354G>A (p.Val452Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000799136] | Chr19:50406293 [GRCh38] Chr19:50909550 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.766G>A (p.Val256Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000818857] | Chr19:50402461 [GRCh38] Chr19:50905718 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1053A>G (p.Leu351=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000920038] | Chr19:50403135 [GRCh38] Chr19:50906392 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.306C>G (p.Asp102Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000796721] | Chr19:50399474 [GRCh38] Chr19:50902731 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-2+47G>C | single nucleotide variant | not provided [RCV000837487] | Chr19:50384437 [GRCh38] Chr19:50887694 [GRCh37] Chr19:19q13.33 |
benign |
NC_000019.10:g.50399059G>T | single nucleotide variant | not provided [RCV000841332] | Chr19:50902316 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2896C>T (p.Leu966Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000791814] | Chr19:50416471 [GRCh38] Chr19:50919728 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2903_2914del (p.Arg968_Glu971del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV000791816] | Chr19:50416476..50416487 [GRCh38] Chr19:50919733..50919744 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.237G>T (p.Trp79Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816234] | Chr19:50399405 [GRCh38] Chr19:50902662 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1387C>A (p.Leu463Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000803248] | Chr19:50406410 [GRCh38] Chr19:50909667 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1497T>C (p.Asn499=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000942290] | Chr19:50406985 [GRCh38] Chr19:50910242 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.644C>T (p.Ala215Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000792190]|not provided [RCV001592969] | Chr19:50402259 [GRCh38] Chr19:50905516 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1408_1422dup (p.Arg470_Leu474dup) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000794715] | Chr19:50406426..50406427 [GRCh38] Chr19:50909683..50909684 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+2T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000816452] | Chr19:50409668 [GRCh38] Chr19:50912925 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202+6G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000803595] | Chr19:50399059 [GRCh38] Chr19:50902316 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.44C>T (p.Pro15Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000813620] | Chr19:50398895 [GRCh38] Chr19:50902152 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.907C>T (p.Pro303Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000813781] | Chr19:50402678 [GRCh38] Chr19:50905935 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000800511]|Hereditary cancer-predisposing syndrome [RCV001018971]|not provided [RCV001772063] | Chr19:50401775 [GRCh38] Chr19:50905032 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50912766)_(50919795_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV000805283] | Chr19:50409509..50416538 [GRCh38] Chr19:50912766..50919795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.893A>G (p.His298Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000823303]|Hereditary cancer-predisposing syndrome [RCV002372359] | Chr19:50402664 [GRCh38] Chr19:50905921 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.600G>A (p.Gly200=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000874441]|Hereditary cancer-predisposing syndrome [RCV002354689]|not provided [RCV001585843] | Chr19:50402215 [GRCh38] Chr19:50905472 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3042C>T (p.Gly1014=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001491481]|Hereditary cancer-predisposing syndrome [RCV002445080] | Chr19:50416698 [GRCh38] Chr19:50919955 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2238dup (p.Thr747fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV000795279]|Hereditary cancer-predisposing syndrome [RCV001014876] | Chr19:50413508..50413509 [GRCh38] Chr19:50916765..50916766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2572G>T (p.Glu858Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000814069] | Chr19:50415445 [GRCh38] Chr19:50918702 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.50413421G>A | single nucleotide variant | not provided [RCV000842057] | Chr19:50916678 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001413076]|not provided [RCV000842059] | Chr19:50409511 [GRCh38] Chr19:50912768 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2710G>T (p.Ala904Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000814434]|Hereditary cancer-predisposing syndrome [RCV002433975] | Chr19:50415583 [GRCh38] Chr19:50918840 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1700G>T (p.Gly567Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000817503] | Chr19:50407340 [GRCh38] Chr19:50910597 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000801128]|Hereditary cancer-predisposing syndrome [RCV001017659] | Chr19:50416609 [GRCh38] Chr19:50919866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-50T>G | single nucleotide variant | not provided [RCV000835920]|not specified [RCV003489929] | Chr19:50406132 [GRCh38] Chr19:50909389 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2718-38A>C | single nucleotide variant | not provided [RCV000835921] | Chr19:50415686 [GRCh38] Chr19:50918943 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-7A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001405051]|not provided [RCV000842359] | Chr19:50409115 [GRCh38] Chr19:50912372 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.523G>T (p.Asp175Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000823821]|not provided [RCV001766754] | Chr19:50402058 [GRCh38] Chr19:50905315 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2899C>T (p.Leu967=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000938693] | Chr19:50416474 [GRCh38] Chr19:50919731 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1323G>T (p.Thr441=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001480989] | Chr19:50406262 [GRCh38] Chr19:50909519 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+47G>A | single nucleotide variant | not provided [RCV000835971]|not specified [RCV002268320] | Chr19:50407221 [GRCh38] Chr19:50910478 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.317-42C>T | single nucleotide variant | not provided [RCV000835984]|not specified [RCV002268321] | Chr19:50401736 [GRCh38] Chr19:50904993 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1619G>C (p.Gly540Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000801265] | Chr19:50407107 [GRCh38] Chr19:50910364 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-23A>G | single nucleotide variant | not provided [RCV000836092]|not specified [RCV002268328] | Chr19:50413719 [GRCh38] Chr19:50916976 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NC_000019.10:g.(?_50406172)_(50407425_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001031174] | Chr19:50909429..50910682 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 | copy number gain | not provided [RCV000847250] | Chr19:49600909..51366070 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+1G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019657] | Chr19:50402742 [GRCh38] Chr19:50905999 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1059G>A (p.Leu353=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001009763]|not specified [RCV001819720] | Chr19:50403141 [GRCh38] Chr19:50906398 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NC_000019.10:g.(?_50408775)_(50417947_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001032353] | Chr19:50912032..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1151T>C (p.Phe384Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010000] | Chr19:50403506 [GRCh38] Chr19:50906763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-8A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001061255]|not provided [RCV000985933] | Chr19:50417834 [GRCh38] Chr19:50921091 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2126G>A (p.Gly709Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526023]|not provided [RCV000985926] | Chr19:50409638 [GRCh38] Chr19:50912895 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1162A>T (p.Met388Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001860624]|Hereditary cancer-predisposing syndrome [RCV001010057] | Chr19:50403517 [GRCh38] Chr19:50906774 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1184G>A (p.Gly395Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010088] | Chr19:50403539 [GRCh38] Chr19:50906796 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.841-8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001455957] | Chr19:50402604 [GRCh38] Chr19:50905861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2182A>C (p.Ile728Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001065968] | Chr19:50413453 [GRCh38] Chr19:50916710 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.452C>T (p.Pro151Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001869398]|Hereditary cancer-predisposing syndrome [RCV003380800]|not provided [RCV000996986] | Chr19:50401913 [GRCh38] Chr19:50905170 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.97C>T (p.Gln33Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526030]|Hereditary cancer-predisposing syndrome [RCV001019767] | Chr19:50398948 [GRCh38] Chr19:50902205 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001067222] | Chr19:50417835 [GRCh38] Chr19:50921092 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-3C>G | single nucleotide variant | not provided [RCV000985921] | Chr19:50406179 [GRCh38] Chr19:50909436 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2751C>T (p.Ser917=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068709]|Hereditary cancer-predisposing syndrome [RCV002434372]|not provided [RCV000985929] | Chr19:50415757 [GRCh38] Chr19:50919014 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2954-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001067700] | Chr19:50416608 [GRCh38] Chr19:50919865 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3020A>G (p.Lys1007Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001067741] | Chr19:50416676 [GRCh38] Chr19:50919933 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 | copy number gain | not provided [RCV001007050] | Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
NM_002691.4(POLD1):c.2250G>A (p.Lys750=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001242495]|Hereditary cancer-predisposing syndrome [RCV002447203] | Chr19:50413521 [GRCh38] Chr19:50916778 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2887G>T (p.Ala963Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001215567] | Chr19:50416462 [GRCh38] Chr19:50919719 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.512C>T (p.Ala171Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001208209] | Chr19:50402047 [GRCh38] Chr19:50905304 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1360C>G (p.Arg454Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001238652] | Chr19:50406299 [GRCh38] Chr19:50909556 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3196C>T (p.His1066Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204818] | Chr19:50417247 [GRCh38] Chr19:50920504 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2639A>G (p.Gln880Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001233319] | Chr19:50415512 [GRCh38] Chr19:50918769 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.715C>T (p.Pro239Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001238902] | Chr19:50402330 [GRCh38] Chr19:50905587 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.67T>C (p.Trp23Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001224065]|Hereditary cancer-predisposing syndrome [RCV002366008] | Chr19:50398918 [GRCh38] Chr19:50902175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.343C>G (p.Pro115Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204994]|not specified [RCV003321808] | Chr19:50401804 [GRCh38] Chr19:50905061 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1729G>A (p.Gly577Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001233503]|not provided [RCV002269351] | Chr19:50407369 [GRCh38] Chr19:50910626 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2603T>C (p.Ile868Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216236] | Chr19:50415476 [GRCh38] Chr19:50918733 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1198A>G (p.Asn400Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216250] | Chr19:50403553 [GRCh38] Chr19:50906810 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1168C>T (p.Pro390Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001220888]|Hereditary cancer-predisposing syndrome [RCV002327521]|not specified [RCV002268456] | Chr19:50403523 [GRCh38] Chr19:50906780 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1882C>T (p.Gln628Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001222871] | Chr19:50408891 [GRCh38] Chr19:50912148 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.165G>C (p.Glu55Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001214130] | Chr19:50399016 [GRCh38] Chr19:50902273 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2211dup (p.Lys738Ter) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001220528] | Chr19:50413481..50413482 [GRCh38] Chr19:50916738..50916739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2305G>T (p.Ala769Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001220546] | Chr19:50413796 [GRCh38] Chr19:50917053 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.467T>G (p.Phe156Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001239190] | Chr19:50402002 [GRCh38] Chr19:50905259 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2353C>A (p.His785Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001222602] | Chr19:50413844 [GRCh38] Chr19:50917101 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-3del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001220694] | Chr19:50417166 [GRCh38] Chr19:50920423 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1048T>C (p.Phe350Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001237557] | Chr19:50403130 [GRCh38] Chr19:50906387 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2975A>G (p.Lys992Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001239351] | Chr19:50416631 [GRCh38] Chr19:50919888 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1793T>C (p.Ile598Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001241095] | Chr19:50408802 [GRCh38] Chr19:50912059 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2603T>A (p.Ile868Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001239923] | Chr19:50415476 [GRCh38] Chr19:50918733 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.745G>A (p.Asp249Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001209399]|Hereditary cancer-predisposing syndrome [RCV002379792] | Chr19:50402360 [GRCh38] Chr19:50905617 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.756C>G (p.Ile252Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001222934] | Chr19:50402371 [GRCh38] Chr19:50905628 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) | copy number gain | not provided [RCV001249294] | Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42 |
not provided |
NM_002691.4(POLD1):c.1097C>T (p.Ala366Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001220671]|Hereditary cancer-predisposing syndrome [RCV002451509] | Chr19:50403179 [GRCh38] Chr19:50906436 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.160G>A (p.Glu54Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001209823]|not specified [RCV002268454] | Chr19:50399011 [GRCh38] Chr19:50902268 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.126G>C (p.Glu42Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001238193]|Hereditary cancer-predisposing syndrome [RCV002375258] | Chr19:50398977 [GRCh38] Chr19:50902234 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.410_413del (p.Val137fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001221075]|not specified [RCV001819913] | Chr19:50401867..50401870 [GRCh38] Chr19:50905124..50905127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3248A>G (p.Lys1083Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218192] | Chr19:50417871 [GRCh38] Chr19:50921128 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3260del (p.Lys1087fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001210113] | Chr19:50417882 [GRCh38] Chr19:50921139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2894C>A (p.Pro965His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001209914] | Chr19:50416469 [GRCh38] Chr19:50919726 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.979C>A (p.Pro327Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001225224] | Chr19:50403061 [GRCh38] Chr19:50906318 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3116del (p.Lys1039fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001210839] | Chr19:50417092 [GRCh38] Chr19:50920349 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1475G>T (p.Ser492Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001210989] | Chr19:50406498 [GRCh38] Chr19:50909755 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1605G>A (p.Met535Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218330]|Hereditary cancer-predisposing syndrome [RCV002402653] | Chr19:50407093 [GRCh38] Chr19:50910350 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202G>T (p.Gly68Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001043211] | Chr19:50399053 [GRCh38] Chr19:50902310 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001214735] | Chr19:50417098 [GRCh38] Chr19:50920355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.658del (p.Val220fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001211117] | Chr19:50402273 [GRCh38] Chr19:50905530 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2728C>T (p.Arg910Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001065038] | Chr19:50415734 [GRCh38] Chr19:50918991 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.112C>G (p.Leu38Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001224296] | Chr19:50398963 [GRCh38] Chr19:50902220 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2116G>T (p.Ala706Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001210272] | Chr19:50409628 [GRCh38] Chr19:50912885 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1342G>A (p.Val448Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001223552]|Hereditary cancer-predisposing syndrome [RCV003373053] | Chr19:50406281 [GRCh38] Chr19:50909538 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3244C>G (p.Arg1082Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001225939]|not provided [RCV001569532] | Chr19:50417867 [GRCh38] Chr19:50921124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2203G>A (p.Val735Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001226006] | Chr19:50413474 [GRCh38] Chr19:50916731 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3306T>A (p.Pro1102=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218567] | Chr19:50417929 [GRCh38] Chr19:50921186 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2452C>A (p.Pro818Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001210551] | Chr19:50414878 [GRCh38] Chr19:50918135 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1418C>T (p.Thr473Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001224605]|Hereditary cancer-predisposing syndrome [RCV002393551] | Chr19:50406441 [GRCh38] Chr19:50909698 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2666G>A (p.Arg889His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218875]|Hereditary cancer-predisposing syndrome [RCV002429932] | Chr19:50415539 [GRCh38] Chr19:50918796 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001201988] | Chr19:50402447 [GRCh38] Chr19:50905704 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.816A>T (p.Lys272Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001212934]|Hereditary cancer-predisposing syndrome [RCV002418729] | Chr19:50402511 [GRCh38] Chr19:50905768 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.462T>A (p.Pro154=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204193] | Chr19:50401923 [GRCh38] Chr19:50905180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1150T>A (p.Phe384Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001229204] | Chr19:50403505 [GRCh38] Chr19:50906762 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001219267] | Chr19:50403487 [GRCh38] Chr19:50906744 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.277C>T (p.Pro93Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001229541]|Hereditary cancer-predisposing syndrome [RCV002436890] | Chr19:50399445 [GRCh38] Chr19:50902702 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.887T>C (p.Val296Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001211968] | Chr19:50402658 [GRCh38] Chr19:50905915 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.632G>C (p.Arg211Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001226250]|not provided [RCV002509636] | Chr19:50402247 [GRCh38] Chr19:50905504 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.643G>T (p.Ala215Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001202672] | Chr19:50402258 [GRCh38] Chr19:50905515 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.574C>G (p.Leu192Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001215440]|not specified [RCV001824935] | Chr19:50402109 [GRCh38] Chr19:50905366 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.3(POLD1):c.2959del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001204514] | Chr19:50416609 [GRCh38] Chr19:50919866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.285C>G (p.Ile95Met) | single nucleotide variant | not provided [RCV000985930] | Chr19:50399453 [GRCh38] Chr19:50902710 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-33G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990269] | Chr19:50417139 [GRCh38] Chr19:50920396 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.975C>T (p.Ile325=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068982]|Hereditary cancer-predisposing syndrome [RCV001019722] | Chr19:50403057 [GRCh38] Chr19:50906314 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1645C>A (p.Arg549Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001246046] | Chr19:50407133 [GRCh38] Chr19:50910390 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001212315] | Chr19:50416529 [GRCh38] Chr19:50919786 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2221G>A (p.Val741Met) | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001199147] | Chr19:50413492 [GRCh38] Chr19:50916749 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3233T>C (p.Ile1078Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001247304] | Chr19:50417856 [GRCh38] Chr19:50921113 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2497C>T (p.Arg833Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001229218] | Chr19:50414923 [GRCh38] Chr19:50918180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2542C>A (p.Leu848Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001212020] | Chr19:50414968 [GRCh38] Chr19:50918225 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.874T>C (p.Trp292Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001212803] | Chr19:50402645 [GRCh38] Chr19:50905902 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001202080] | Chr19:50417169 [GRCh38] Chr19:50920426 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3128A>G (p.His1043Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003105070]|not provided [RCV003149064] | Chr19:50417179 [GRCh38] Chr19:50920436 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2359C>T (p.Pro787Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003106315] | Chr19:50413850 [GRCh38] Chr19:50917107 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3136G>A (p.Ala1046Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003104297] | Chr19:50417187 [GRCh38] Chr19:50920444 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+31del | deletion | not provided [RCV001576093]|not specified [RCV002268524] | Chr19:50402155 [GRCh38] Chr19:50905412 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1582G>A (p.Val528Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001859369]|POLD1-related condition [RCV003394136]|not provided [RCV001550940] | Chr19:50407070 [GRCh38] Chr19:50910327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1397A>G (p.Glu466Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003107175] | Chr19:50406420 [GRCh38] Chr19:50909677 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-168_3219-161dup | duplication | not provided [RCV001566200] | Chr19:50417671..50417672 [GRCh38] Chr19:50920928..50920929 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+142_1775+151del | microsatellite | not provided [RCV001578224] | Chr19:50407544..50407553 [GRCh38] Chr19:50910801..50910810 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-94del | deletion | not provided [RCV001550303] | Chr19:50413646 [GRCh38] Chr19:50916903 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-276del | deletion | not provided [RCV001555927] | Chr19:50414539 [GRCh38] Chr19:50917796 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+53G>A | single nucleotide variant | not provided [RCV001651976]|not specified [RCV003487609] | Chr19:50403272 [GRCh38] Chr19:50906529 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-167_3219-161dup | duplication | not provided [RCV001591624] | Chr19:50417671..50417672 [GRCh38] Chr19:50920928..50920929 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+330_1775+333dup | duplication | not provided [RCV001713550] | Chr19:50407725..50407726 [GRCh38] Chr19:50910982..50910983 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2820+279A>G | single nucleotide variant | not provided [RCV001556777] | Chr19:50416105 [GRCh38] Chr19:50919362 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-154C>G | single nucleotide variant | not provided [RCV001718076] | Chr19:50417688 [GRCh38] Chr19:50920945 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-160_3219-153del | deletion | not provided [RCV001569995] | Chr19:50417675..50417682 [GRCh38] Chr19:50920932..50920939 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.10:g.50384216G>A | single nucleotide variant | not provided [RCV001718079] | Chr19:50384216 [GRCh38] Chr19:50887473 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2820+60G>A | single nucleotide variant | not provided [RCV001571705] | Chr19:50415886 [GRCh38] Chr19:50919143 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_001256849.1(POLD1):c.*68T>C | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789515]|not provided [RCV001670605]|not specified [RCV003487671] | Chr19:50418015 [GRCh38] Chr19:50921272 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1243-81G>A | single nucleotide variant | not provided [RCV001673468] | Chr19:50406101 [GRCh38] Chr19:50909358 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.460C>G (p.Pro154Ala) | single nucleotide variant | not provided [RCV001570797] | Chr19:50401921 [GRCh38] Chr19:50905178 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-110C>T | single nucleotide variant | not provided [RCV001588317] | Chr19:50406072 [GRCh38] Chr19:50909329 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-45G>C | single nucleotide variant | not provided [RCV001673610]|not specified [RCV002465899] | Chr19:50415679 [GRCh38] Chr19:50918936 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1872C>G (p.Pro624=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002072249]|Hereditary cancer-predisposing syndrome [RCV002414274]|not provided [RCV001574313] | Chr19:50408881 [GRCh38] Chr19:50912138 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+46G>C | single nucleotide variant | not provided [RCV001583269]|not specified [RCV002268527] | Chr19:50413567 [GRCh38] Chr19:50916824 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1775+10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000943636] | Chr19:50407425 [GRCh38] Chr19:50910682 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1572G>A (p.Glu524=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001418939]|Hereditary cancer-predisposing syndrome [RCV001012238] | Chr19:50407060 [GRCh38] Chr19:50910317 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1527T>C (p.Ala509=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001470644] | Chr19:50407015 [GRCh38] Chr19:50910272 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1629C>T (p.Leu543=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001504577]|Hereditary cancer-predisposing syndrome [RCV002400035] | Chr19:50407117 [GRCh38] Chr19:50910374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2166G>A (p.Gly722=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001466685]|Hereditary cancer-predisposing syndrome [RCV002427264] | Chr19:50413437 [GRCh38] Chr19:50916694 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3114G>A (p.Gln1038=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001501022] | Chr19:50417091 [GRCh38] Chr19:50920348 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1575G>T (p.Arg525=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001410481]|Hereditary cancer-predisposing syndrome [RCV001012240] | Chr19:50407063 [GRCh38] Chr19:50910320 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2625C>A (p.Arg875=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001419434] | Chr19:50415498 [GRCh38] Chr19:50918755 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.327G>A (p.Gln109=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001465384] | Chr19:50401788 [GRCh38] Chr19:50905045 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001481394] | Chr19:50401990 [GRCh38] Chr19:50905247 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1057C>T (p.Leu353=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000932606]|not provided [RCV003238253] | Chr19:50403139 [GRCh38] Chr19:50906396 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1896G>A (p.Leu632=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001471172] | Chr19:50409125 [GRCh38] Chr19:50912382 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1566G>T (p.Leu522=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000975779] | Chr19:50407054 [GRCh38] Chr19:50910311 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1962G>A (p.Gly654=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001505071] | Chr19:50409191 [GRCh38] Chr19:50912448 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1149C>T (p.Thr383=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001436403] | Chr19:50403504 [GRCh38] Chr19:50906761 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1671C>G (p.Ser557=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001476952]|Hereditary cancer-predisposing syndrome [RCV002400047] | Chr19:50407159 [GRCh38] Chr19:50910416 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+6dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001425684] | Chr19:50407419..50407420 [GRCh38] Chr19:50910676..50910677 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1476C>T (p.Ser492=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001479052]|Hereditary cancer-predisposing syndrome [RCV001011709] | Chr19:50406499 [GRCh38] Chr19:50909756 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1647T>C (p.Arg549=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000928464] | Chr19:50407135 [GRCh38] Chr19:50910392 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1950A>G (p.Ser650=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001460076] | Chr19:50409179 [GRCh38] Chr19:50912436 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.852C>T (p.Cys284=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000933272]|Hereditary cancer-predisposing syndrome [RCV003307714] | Chr19:50402623 [GRCh38] Chr19:50905880 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000978901] | Chr19:50407182 [GRCh38] Chr19:50910439 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.174G>A (p.Leu58=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000904114]|Hereditary cancer-predisposing syndrome [RCV002399995] | Chr19:50399025 [GRCh38] Chr19:50902282 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2556C>G (p.Leu852=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000940061] | Chr19:50414982 [GRCh38] Chr19:50918239 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2829G>C (p.Leu943=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000929980]|Hereditary cancer-predisposing syndrome [RCV002434233] | Chr19:50416404 [GRCh38] Chr19:50919661 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.897A>G (p.Pro299=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001499235]|Hereditary cancer-predisposing syndrome [RCV002372511]|POLD1-related condition [RCV003895437] | Chr19:50402668 [GRCh38] Chr19:50905925 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2754G>T (p.Leu918=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000964745]|Hereditary cancer-predisposing syndrome [RCV002434326] | Chr19:50415760 [GRCh38] Chr19:50919017 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000964771] | Chr19:50402445 [GRCh38] Chr19:50905702 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-10T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000921735] | Chr19:50406172 [GRCh38] Chr19:50909429 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000904148] | Chr19:50414806 [GRCh38] Chr19:50918063 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1158T>C (p.Arg386=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000938451]|Hereditary cancer-predisposing syndrome [RCV001010042] | Chr19:50403513 [GRCh38] Chr19:50906770 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.562C>T (p.Leu188=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000977490] | Chr19:50402097 [GRCh38] Chr19:50905354 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+7_463+8insT | insertion | Colorectal cancer, susceptibility to, 10 [RCV003526014] | Chr19:50401931..50401932 [GRCh38] Chr19:50905188..50905189 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3012C>T (p.Ala1004=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001406937] | Chr19:50416668 [GRCh38] Chr19:50919925 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3306T>C (p.Pro1102=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001466333]|Hereditary cancer-predisposing syndrome [RCV002320112] | Chr19:50417929 [GRCh38] Chr19:50921186 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.84A>C (p.Ala28=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001494321]|Hereditary cancer-predisposing syndrome [RCV002259050] | Chr19:50398935 [GRCh38] Chr19:50902192 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.303T>C (p.Ile101=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001409116]|Hereditary cancer-predisposing syndrome [RCV002445029] | Chr19:50399471 [GRCh38] Chr19:50902728 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1641C>G (p.Leu547=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000932214]|Hereditary cancer-predisposing syndrome [RCV003307710] | Chr19:50407129 [GRCh38] Chr19:50910386 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2652C>T (p.Thr884=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000878078]|Hereditary cancer-predisposing syndrome [RCV002454054]|not provided [RCV001766786] | Chr19:50415525 [GRCh38] Chr19:50918782 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.555G>T (p.Pro185=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000930199] | Chr19:50402090 [GRCh38] Chr19:50905347 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000982017] | Chr19:50401993 [GRCh38] Chr19:50905250 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.338G>T (p.Gly113Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001070713]|Hereditary cancer-predisposing syndrome [RCV002258129]|not provided [RCV003325542] | Chr19:50401799 [GRCh38] Chr19:50905056 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1462G>T (p.Asp488Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001222029] | Chr19:50406485 [GRCh38] Chr19:50909742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.895C>A (p.Pro299Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001244223] | Chr19:50402666 [GRCh38] Chr19:50905923 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-4_1138-3dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001231589] | Chr19:50403485..50403486 [GRCh38] Chr19:50906742..50906743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1937T>C (p.Phe646Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001070942]|Hereditary cancer-predisposing syndrome [RCV002411616] | Chr19:50409166 [GRCh38] Chr19:50912423 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3189C>T (p.Gly1063=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001222230]|Hereditary cancer-predisposing syndrome [RCV002322076] | Chr19:50417240 [GRCh38] Chr19:50920497 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.884_885del (p.Val295fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001035422] | Chr19:50402654..50402655 [GRCh38] Chr19:50905911..50905912 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2336C>T (p.Ala779Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218956]|Hereditary cancer-predisposing syndrome [RCV002451498] | Chr19:50413827 [GRCh38] Chr19:50917084 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1580T>C (p.Met527Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001239006] | Chr19:50407068 [GRCh38] Chr19:50910325 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.907C>A (p.Pro303Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001230167] | Chr19:50402678 [GRCh38] Chr19:50905935 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1339A>G (p.Lys447Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001203531] | Chr19:50406278 [GRCh38] Chr19:50909535 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2530G>A (p.Val844Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001236127] | Chr19:50414956 [GRCh38] Chr19:50918213 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3229C>G (p.Pro1077Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001242885]|Hereditary cancer-predisposing syndrome [RCV002322153] | Chr19:50417852 [GRCh38] Chr19:50921109 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2589C>G (p.His863Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001232887]|Hereditary cancer-predisposing syndrome [RCV002427446]|not provided [RCV003332277] | Chr19:50415462 [GRCh38] Chr19:50918719 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1250C>T (p.Thr417Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001219459] | Chr19:50406189 [GRCh38] Chr19:50909446 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1345G>A (p.Val449Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001244919] | Chr19:50406284 [GRCh38] Chr19:50909541 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2437C>T (p.Leu813Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001244924] | Chr19:50414863 [GRCh38] Chr19:50918120 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2619C>G (p.Cys873Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001203630] | Chr19:50415492 [GRCh38] Chr19:50918749 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1840C>T (p.His614Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001223018]|Hereditary cancer-predisposing syndrome [RCV002411823] | Chr19:50408849 [GRCh38] Chr19:50912106 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2149T>C (p.Ser717Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001227093] | Chr19:50409661 [GRCh38] Chr19:50912918 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2427_2445delinsTCAGCAAGGGCG (p.Ala810fs) | indel | Colorectal cancer, susceptibility to, 10 [RCV001247909] | Chr19:50414853..50414871 [GRCh38] Chr19:50918110..50918128 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.984G>C (p.Glu328Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001214574] | Chr19:50403066 [GRCh38] Chr19:50906323 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1691T>C (p.Met564Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001214655] | Chr19:50407331 [GRCh38] Chr19:50910588 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.892C>T (p.His298Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001036537] | Chr19:50402663 [GRCh38] Chr19:50905920 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.226G>C (p.Asp76His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001223328] | Chr19:50399394 [GRCh38] Chr19:50902651 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2454_2455del (p.Asp819fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001227443] | Chr19:50414880..50414881 [GRCh38] Chr19:50918137..50918138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1123G>A (p.Glu375Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216961]|Hereditary cancer-predisposing syndrome [RCV002256703] | Chr19:50403205 [GRCh38] Chr19:50906462 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1003A>G (p.Ile335Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001036843] | Chr19:50403085 [GRCh38] Chr19:50906342 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.102C>G (p.Phe34Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001043709]|Hereditary cancer-predisposing syndrome [RCV002379515] | Chr19:50398953 [GRCh38] Chr19:50902210 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.56G>T (p.Arg19Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001043786] | Chr19:50398907 [GRCh38] Chr19:50902164 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001202634] | Chr19:50406980 [GRCh38] Chr19:50910237 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1785C>G (p.Asp595Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001234289] | Chr19:50408794 [GRCh38] Chr19:50912051 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1735G>T (p.Glu579Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001217097] | Chr19:50407375 [GRCh38] Chr19:50910632 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.247A>T (p.Thr83Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001066068] | Chr19:50399415 [GRCh38] Chr19:50902672 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.777C>G (p.Asp259Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001044248]|Hereditary cancer-predisposing syndrome [RCV003160321] | Chr19:50402472 [GRCh38] Chr19:50905729 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1153A>G (p.Ile385Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051579]|Hereditary cancer-predisposing syndrome [RCV002348400] | Chr19:50403508 [GRCh38] Chr19:50906765 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1108A>T (p.Ser370Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001220538]|Hereditary cancer-predisposing syndrome [RCV002451506] | Chr19:50403190 [GRCh38] Chr19:50906447 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2037C>A (p.Asp679Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001209268] | Chr19:50409549 [GRCh38] Chr19:50912806 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1072C>G (p.Arg358Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001224286]|Hereditary cancer-predisposing syndrome [RCV002418778] | Chr19:50403154 [GRCh38] Chr19:50906411 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1790C>G (p.Pro597Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001066659] | Chr19:50408799 [GRCh38] Chr19:50912056 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.974T>C (p.Ile325Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001045408] | Chr19:50403056 [GRCh38] Chr19:50906313 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.937C>A (p.Leu313Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001211688] | Chr19:50402708 [GRCh38] Chr19:50905965 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1109G>A (p.Ser370Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001217665]|Hereditary cancer-predisposing syndrome [RCV002436834] | Chr19:50403191 [GRCh38] Chr19:50906448 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.941G>C (p.Ser314Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019331]|not provided [RCV001585925] | Chr19:50402712 [GRCh38] Chr19:50905969 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1A>G (p.Met1Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001048613] | Chr19:50398852 [GRCh38] Chr19:50902109 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2158G>A (p.Val720Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218023]|Hereditary cancer-predisposing syndrome [RCV002429926] | Chr19:50413429 [GRCh38] Chr19:50916686 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1634A>G (p.Tyr545Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001068109]|Hereditary cancer-predisposing syndrome [RCV002402463] | Chr19:50407122 [GRCh38] Chr19:50910379 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.558dup (p.Val187fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001218229] | Chr19:50402091..50402092 [GRCh38] Chr19:50905348..50905349 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001432379] | Chr19:50403604 [GRCh38] Chr19:50906861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.762C>T (p.Phe254=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001486717]|Hereditary cancer-predisposing syndrome [RCV003307716] | Chr19:50402457 [GRCh38] Chr19:50905714 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2550C>T (p.Arg850=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000933850]|Hereditary cancer-predisposing syndrome [RCV002427320] | Chr19:50414976 [GRCh38] Chr19:50918233 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.255A>G (p.Pro85=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000956001]|Hereditary cancer-predisposing syndrome [RCV002434322] | Chr19:50399423 [GRCh38] Chr19:50902680 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.189G>A (p.Glu63=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001422976] | Chr19:50399040 [GRCh38] Chr19:50902297 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.21A>G (p.Pro7=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001427016] | Chr19:50398872 [GRCh38] Chr19:50902129 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2884C>T (p.Leu962=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001400668]|not provided [RCV000935433] | Chr19:50416459 [GRCh38] Chr19:50919716 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.2505C>T (p.Asp835=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001505923]|Hereditary cancer-predisposing syndrome [RCV002454130]|not provided [RCV000935461] | Chr19:50414931 [GRCh38] Chr19:50918188 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1776-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000911603] | Chr19:50408778 [GRCh38] Chr19:50912035 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3144G>A (p.Glu1048=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000956485]|Hereditary cancer-predisposing syndrome [RCV002320172] | Chr19:50417195 [GRCh38] Chr19:50920452 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.171G>A (p.Glu57=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001435429]|Hereditary cancer-predisposing syndrome [RCV002400007] | Chr19:50399022 [GRCh38] Chr19:50902279 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+118T>A | single nucleotide variant | not provided [RCV001556618] | Chr19:50406635 [GRCh38] Chr19:50909892 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-317C>T | single nucleotide variant | not provided [RCV001562375] | Chr19:50408468 [GRCh38] Chr19:50911725 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+331_1775+333dup | duplication | not provided [RCV001548624] | Chr19:50407725..50407726 [GRCh38] Chr19:50910982..50910983 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV000990264] | Chr19:50415426 [GRCh38] Chr19:50918683 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-166_3219-161dup | duplication | not provided [RCV001559037] | Chr19:50417671..50417672 [GRCh38] Chr19:50920928..50920929 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-11C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002072120]|not provided [RCV001559761] | Chr19:50417831 [GRCh38] Chr19:50921088 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1384-35A>G | single nucleotide variant | not provided [RCV001571583]|not specified [RCV002465890] | Chr19:50406372 [GRCh38] Chr19:50909629 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.1242+1_1242+2insGTCTGGGCCCGAGAGA | insertion | Hereditary cancer-predisposing syndrome [RCV002257318] | Chr19:50403598..50403599 [GRCh38] Chr19:50906855..50906856 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3279G>A (p.Glu1093=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094249]|Hereditary cancer-predisposing syndrome [RCV002258611] | Chr19:50417902 [GRCh38] Chr19:50921159 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2551C>G (p.Leu851Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002569365]|not provided [RCV002469700] | Chr19:50414977 [GRCh38] Chr19:50918234 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-161del | deletion | not provided [RCV001659367] | Chr19:50417672 [GRCh38] Chr19:50920929 [GRCh37] Chr19:19q13.33 |
benign |
NC_000019.10:g.50384211C>G | single nucleotide variant | not provided [RCV001550733] | Chr19:50384211 [GRCh38] Chr19:50887468 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2358C>T (p.Phe786=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003106710] | Chr19:50413849 [GRCh38] Chr19:50917106 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1567del (p.Leu523fs) | deletion | not provided [RCV002464875] | Chr19:50407055 [GRCh38] Chr19:50910312 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+35T>C | single nucleotide variant | not specified [RCV002466215] | Chr19:50403632 [GRCh38] Chr19:50906889 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-28G>A | single nucleotide variant | not specified [RCV002466221] | Chr19:50416582 [GRCh38] Chr19:50919839 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.514_517dup (p.Ser173fs) | duplication | Hereditary cancer-predisposing syndrome [RCV001023606] | Chr19:50402048..50402049 [GRCh38] Chr19:50905305..50905306 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.20C>A (p.Pro7Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001043362] | Chr19:50398871 [GRCh38] Chr19:50902128 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2932C>G (p.Arg978Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001066381]|not provided [RCV003238835] | Chr19:50416507 [GRCh38] Chr19:50919764 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-4C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068815]|Hereditary cancer-predisposing syndrome [RCV001009982] | Chr19:50403489 [GRCh38] Chr19:50906746 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2718-42A>C | single nucleotide variant | not provided [RCV001678067]|not specified [RCV003321865] | Chr19:50415682 [GRCh38] Chr19:50918939 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.202+21T>C | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789550]|not provided [RCV001714443]|not specified [RCV003487759] | Chr19:50399074 [GRCh38] Chr19:50902331 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2821-116C>T | single nucleotide variant | not provided [RCV001596363] | Chr19:50416280 [GRCh38] Chr19:50919537 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+321_1775+333del | deletion | not provided [RCV001620435] | Chr19:50407726..50407738 [GRCh38] Chr19:50910983..50910995 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.971-68G>C | single nucleotide variant | not provided [RCV001595776] | Chr19:50402985 [GRCh38] Chr19:50906242 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.758+25G>A | single nucleotide variant | not provided [RCV001673639]|not specified [RCV002268553] | Chr19:50402398 [GRCh38] Chr19:50905655 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-160del | deletion | not provided [RCV001658466] | Chr19:50417682 [GRCh38] Chr19:50920939 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.971-21C>T | single nucleotide variant | not provided [RCV001598502] | Chr19:50403032 [GRCh38] Chr19:50906289 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-1-259dup | duplication | not provided [RCV001598720] | Chr19:50398570..50398571 [GRCh38] Chr19:50901827..50901828 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.8G>A (p.Gly3Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001070117] | Chr19:50398859 [GRCh38] Chr19:50902116 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.175C>T (p.Gln59Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526028]|Hereditary cancer-predisposing syndrome [RCV001013004]|POLD1-related condition [RCV003396599] | Chr19:50399026 [GRCh38] Chr19:50902283 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+1G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026587] | Chr19:50402374 [GRCh38] Chr19:50905631 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+3A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640952]|Hereditary cancer-predisposing syndrome [RCV001013589] | Chr19:50408904 [GRCh38] Chr19:50912161 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+2T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001009946] | Chr19:50403221 [GRCh38] Chr19:50906478 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.71ATG[3] (p.Asp27del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003769632]|Hereditary cancer-predisposing syndrome [RCV001027048] | Chr19:50398921..50398923 [GRCh38] Chr19:50902178..50902180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1191C>T (p.Asn397=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068824]|Hereditary cancer-predisposing syndrome [RCV001010262] | Chr19:50403546 [GRCh38] Chr19:50906803 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2162del (p.Thr721fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001071401] | Chr19:50413433 [GRCh38] Chr19:50916690 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2902C>T (p.Arg968Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001035685] | Chr19:50416477 [GRCh38] Chr19:50919734 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2291G>A (p.Gly764Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001071730]|Hereditary cancer-predisposing syndrome [RCV002445370] | Chr19:50413782 [GRCh38] Chr19:50917039 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1474A>G (p.Ser492Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001071836]|Hereditary cancer-predisposing syndrome [RCV002393346] | Chr19:50406497 [GRCh38] Chr19:50909754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2284_2292del (p.Arg762_Gly764del) | deletion | Hereditary cancer-predisposing syndrome [RCV001015058] | Chr19:50413773..50413781 [GRCh38] Chr19:50917030..50917038 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2071C>G (p.Leu691Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001050734]|Hereditary cancer-predisposing syndrome [RCV002416383] | Chr19:50409583 [GRCh38] Chr19:50912840 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001042983]|Hereditary cancer-predisposing syndrome [RCV001015366]|not specified [RCV001819726] | Chr19:50413882 [GRCh38] Chr19:50917139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2469del (p.Met824fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001860793]|Hereditary cancer-predisposing syndrome [RCV001015455] | Chr19:50414895 [GRCh38] Chr19:50918152 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2606C>A (p.Ser869Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001860811]|Hereditary cancer-predisposing syndrome [RCV001016042] | Chr19:50415479 [GRCh38] Chr19:50918736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3157C>G (p.Arg1053Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001066859] | Chr19:50417208 [GRCh38] Chr19:50920465 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1395G>A (p.Arg465=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001415099]|not specified [RCV001193678] | Chr19:50406418 [GRCh38] Chr19:50909675 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1351A>G (p.Met451Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011033] | Chr19:50406290 [GRCh38] Chr19:50909547 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1338C>T (p.Thr446=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011113] | Chr19:50406277 [GRCh38] Chr19:50909534 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1360C>A (p.Arg454Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001365088]|Hereditary cancer-predisposing syndrome [RCV001011176] | Chr19:50406299 [GRCh38] Chr19:50909556 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-5C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011270] | Chr19:50406402 [GRCh38] Chr19:50909659 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1035G>A (p.Gly345=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001413210]|Hereditary cancer-predisposing syndrome [RCV001017088] | Chr19:50403117 [GRCh38] Chr19:50906374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1409G>C (p.Arg470Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011431] | Chr19:50406432 [GRCh38] Chr19:50909689 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1419G>C (p.Thr473=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011446] | Chr19:50406442 [GRCh38] Chr19:50909699 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1445T>A (p.Leu482Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001210371]|Hereditary cancer-predisposing syndrome [RCV001011620] | Chr19:50406468 [GRCh38] Chr19:50909725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1449C>G (p.Gly483=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068839]|Hereditary cancer-predisposing syndrome [RCV001011638] | Chr19:50406472 [GRCh38] Chr19:50909729 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1085C>T (p.Pro362Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001069703]|Hereditary cancer-predisposing syndrome [RCV001017163]|not provided [RCV001284036] | Chr19:50403167 [GRCh38] Chr19:50906424 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1094G>A (p.Gly365Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017261] | Chr19:50403176 [GRCh38] Chr19:50906433 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1481T>A (p.Ile494Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011807]|not provided [RCV001787122] | Chr19:50406504 [GRCh38] Chr19:50909761 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.1494+4C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001220633]|Hereditary cancer-predisposing syndrome [RCV001011859]|POLD1-related condition [RCV003973027] | Chr19:50406521 [GRCh38] Chr19:50909778 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2954-3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001211371]|Hereditary cancer-predisposing syndrome [RCV001017660] | Chr19:50416607 [GRCh38] Chr19:50919864 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+3G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001070765]|Hereditary cancer-predisposing syndrome [RCV001017711]|not provided [RCV001766841] | Chr19:50402538 [GRCh38] Chr19:50905795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1524G>T (p.Leu508=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068849]|Hereditary cancer-predisposing syndrome [RCV001012010] | Chr19:50407012 [GRCh38] Chr19:50910269 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1536C>A (p.Cys512Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001326371]|Hereditary cancer-predisposing syndrome [RCV001012082] | Chr19:50407024 [GRCh38] Chr19:50910281 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1587G>A (p.Leu529=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526027]|Hereditary cancer-predisposing syndrome [RCV001012198] | Chr19:50407075 [GRCh38] Chr19:50910332 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3253G>T (p.Val1085Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001211490]|Hereditary cancer-predisposing syndrome [RCV002322028] | Chr19:50417876 [GRCh38] Chr19:50921133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1618G>T (p.Gly540Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001295884]|Hereditary cancer-predisposing syndrome [RCV001012436] | Chr19:50407106 [GRCh38] Chr19:50910363 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1016C>T (p.Ser339Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001860611]|Hereditary cancer-predisposing syndrome [RCV001009701]|not provided [RCV001819719] | Chr19:50403098 [GRCh38] Chr19:50906355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.130A>G (p.Met44Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001046970] | Chr19:50398981 [GRCh38] Chr19:50902238 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_50401768)_(50417947_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001032825] | Chr19:50905025..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3001G>A (p.Gly1001Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001035083]|Hereditary cancer-predisposing syndrome [RCV002434425]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001788402]|not provided [RCV001732017] | Chr19:50416657 [GRCh38] Chr19:50919914 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.815A>G (p.Lys272Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001049317] | Chr19:50402510 [GRCh38] Chr19:50905767 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1661_1670del (p.Lys554fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001071391]|Hereditary cancer-predisposing syndrome [RCV002402485] | Chr19:50407149..50407158 [GRCh38] Chr19:50910406..50910415 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2414G>C (p.Ser805Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001047642] | Chr19:50414840 [GRCh38] Chr19:50918097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.483G>C (p.Met161Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001049898]|Hereditary cancer-predisposing syndrome [RCV002339253] | Chr19:50402018 [GRCh38] Chr19:50905275 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-1-215G>A | single nucleotide variant | not provided [RCV001611995] | Chr19:50398636 [GRCh38] Chr19:50901893 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1181C>T (p.Thr394Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001298775]|Hereditary cancer-predisposing syndrome [RCV001010182] | Chr19:50403536 [GRCh38] Chr19:50906793 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1210C>T (p.Pro404Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640950]|Hereditary cancer-predisposing syndrome [RCV001010336] | Chr19:50403565 [GRCh38] Chr19:50906822 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1235C>T (p.Thr412Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001860639]|Hereditary cancer-predisposing syndrome [RCV001010481] | Chr19:50403590 [GRCh38] Chr19:50906847 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-140G>T | single nucleotide variant | not provided [RCV001614234] | Chr19:50417702 [GRCh38] Chr19:50920959 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-52C>A | single nucleotide variant | not provided [RCV001672336] | Chr19:50417790 [GRCh38] Chr19:50921047 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1270G>A (p.Val424Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002549322]|Hereditary cancer-predisposing syndrome [RCV001010656] | Chr19:50406209 [GRCh38] Chr19:50909466 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1284C>T (p.Cys428=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002068830]|Hereditary cancer-predisposing syndrome [RCV001010747] | Chr19:50406223 [GRCh38] Chr19:50909480 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+332_1775+333dup | duplication | not provided [RCV001682136] | Chr19:50407725..50407726 [GRCh38] Chr19:50910982..50910983 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1242+314A>C | single nucleotide variant | not provided [RCV001649407] | Chr19:50403911 [GRCh38] Chr19:50907168 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-194G>A | single nucleotide variant | not provided [RCV001565786] | Chr19:50417648 [GRCh38] Chr19:50920905 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-160_3219-155del | deletion | not provided [RCV001681377] | Chr19:50417677..50417682 [GRCh38] Chr19:50920934..50920939 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1321A>G (p.Thr441Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011005]|not provided [RCV001759690] | Chr19:50406260 [GRCh38] Chr19:50909517 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2389-276G>C | single nucleotide variant | not provided [RCV001681551] | Chr19:50414539 [GRCh38] Chr19:50917796 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1776-7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001048695] | Chr19:50408778 [GRCh38] Chr19:50912035 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.*11A>T | single nucleotide variant | not provided [RCV001567010] | Chr19:50417958 [GRCh38] Chr19:50921215 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-160_3219-154del | deletion | not provided [RCV001530672] | Chr19:50417676..50417682 [GRCh38] Chr19:50920933..50920939 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.573A>C (p.Glu191Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001232922]|Hereditary cancer-predisposing syndrome [RCV002348784] | Chr19:50402108 [GRCh38] Chr19:50905365 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.620C>G (p.Ser207Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001041571] | Chr19:50402235 [GRCh38] Chr19:50905492 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.265C>T (p.Pro89Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001234687] | Chr19:50399433 [GRCh38] Chr19:50902690 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2396dup (p.Tyr801fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001217535] | Chr19:50414820..50414821 [GRCh38] Chr19:50918077..50918078 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2636C>G (p.Ser879Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001247283] | Chr19:50415509 [GRCh38] Chr19:50918766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2012A>G (p.Lys671Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001207515] | Chr19:50409524 [GRCh38] Chr19:50912781 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1727_1728del (p.Glu576fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001206267] | Chr19:50407365..50407366 [GRCh38] Chr19:50910622..50910623 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001236743] | Chr19:50406399 [GRCh38] Chr19:50909656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2804C>T (p.Ala935Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001038517] | Chr19:50415810 [GRCh38] Chr19:50919067 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.557C>T (p.Ala186Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001203645] | Chr19:50402092 [GRCh38] Chr19:50905349 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2810T>A (p.Met937Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001206539] | Chr19:50415816 [GRCh38] Chr19:50919073 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.242G>C (p.Arg81Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001234889] | Chr19:50399410 [GRCh38] Chr19:50902667 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.89G>C (p.Arg30Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001235797] | Chr19:50398940 [GRCh38] Chr19:50902197 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1321A>T (p.Thr441Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001235801]|Hereditary cancer-predisposing syndrome [RCV002379899]|not specified [RCV001819933] | Chr19:50406260 [GRCh38] Chr19:50909517 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2568C>A (p.Asp856Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001235836] | Chr19:50415441 [GRCh38] Chr19:50918698 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3229C>T (p.Pro1077Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218879]|Hereditary cancer-predisposing syndrome [RCV002447101] | Chr19:50417852 [GRCh38] Chr19:50921109 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2795G>T (p.Gly932Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001049678] | Chr19:50415801 [GRCh38] Chr19:50919058 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2041del (p.Leu681fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001071420] | Chr19:50409549 [GRCh38] Chr19:50912806 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1904A>T (p.Asp635Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001035703]|Hereditary cancer-predisposing syndrome [RCV002255604]|not provided [RCV003223687] | Chr19:50409133 [GRCh38] Chr19:50912390 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.184C>G (p.Leu62Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001056434] | Chr19:50399035 [GRCh38] Chr19:50902292 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1630A>C (p.Ser544Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001060392] | Chr19:50407118 [GRCh38] Chr19:50910375 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2075C>T (p.Ala692Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204121]|not provided [RCV001760164] | Chr19:50409587 [GRCh38] Chr19:50912844 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1254C>G (p.Phe418Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001247537] | Chr19:50406193 [GRCh38] Chr19:50909450 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.588G>A (p.Glu196=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001235959]|Hereditary cancer-predisposing syndrome [RCV002357011] | Chr19:50402123 [GRCh38] Chr19:50905380 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2475C>G (p.Asp825Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001056548] | Chr19:50414901 [GRCh38] Chr19:50918158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3317C>A (p.Ala1106Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001060659]|Hereditary cancer-predisposing syndrome [RCV002320315] | Chr19:50417940 [GRCh38] Chr19:50921197 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2234A>G (p.Tyr745Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001208548] | Chr19:50413505 [GRCh38] Chr19:50916762 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.205C>T (p.Gln69Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001208561] | Chr19:50399373 [GRCh38] Chr19:50902630 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1244T>C (p.Val415Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001236849] | Chr19:50406183 [GRCh38] Chr19:50909440 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970G>C (p.Gly324Arg) | single nucleotide variant | POLD1-related disorders [RCV001249732] | Chr19:50402741 [GRCh38] Chr19:50905998 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2488dup (p.Glu830fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001036518] | Chr19:50414912..50414913 [GRCh38] Chr19:50918169..50918170 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+4C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001061290] | Chr19:50416532 [GRCh38] Chr19:50919789 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 | copy number gain | not provided [RCV001007055] | Chr19:50469730..51916485 [GRCh37] Chr19:19q13.33-13.41 |
uncertain significance |
NM_002691.4(POLD1):c.971G>A (p.Gly324Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001247590]|Hereditary cancer-predisposing syndrome [RCV002379948] | Chr19:50403053 [GRCh38] Chr19:50906310 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.185T>C (p.Leu62Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001057842]|Hereditary cancer-predisposing syndrome [RCV002409469] | Chr19:50399036 [GRCh38] Chr19:50902293 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.545T>C (p.Leu182Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001058010] | Chr19:50402080 [GRCh38] Chr19:50905337 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.215C>T (p.Pro72Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216695] | Chr19:50399383 [GRCh38] Chr19:50902640 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2228A>G (p.Asn743Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216776]|not provided [RCV001751406] | Chr19:50413499 [GRCh38] Chr19:50916756 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.128_136del (p.Glu43_Glu45del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001205708] | Chr19:50398971..50398979 [GRCh38] Chr19:50902228..50902236 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1320G>C (p.Gln440His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001050552]|Hereditary cancer-predisposing syndrome [RCV001010990] | Chr19:50406259 [GRCh38] Chr19:50909516 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.433G>T (p.Ala145Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001234251] | Chr19:50401894 [GRCh38] Chr19:50905151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1371G>A (p.Met457Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011238] | Chr19:50406310 [GRCh38] Chr19:50909567 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1374_1377delinsTCCT (p.Met459Pro) | indel | Hereditary cancer-predisposing syndrome [RCV001011246] | Chr19:50406313..50406316 [GRCh38] Chr19:50909570..50909573 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1385T>G (p.Val462Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001347058]|Hereditary cancer-predisposing syndrome [RCV001011279] | Chr19:50406408 [GRCh38] Chr19:50909665 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.673C>A (p.Arg225Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204183] | Chr19:50402288 [GRCh38] Chr19:50905545 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2212A>C (p.Lys738Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001236238]|not provided [RCV003442799] | Chr19:50413483 [GRCh38] Chr19:50916740 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+1GT[2] | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001218054] | Chr19:50417270..50417271 [GRCh38] Chr19:50920527..50920528 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.109G>A (p.Asp37Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001037683]|not provided [RCV002280150] | Chr19:50398960 [GRCh38] Chr19:50902217 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2174G>A (p.Arg725His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001040229]|Hereditary cancer-predisposing syndrome [RCV002427502] | Chr19:50413445 [GRCh38] Chr19:50916702 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2443T>C (p.Ser815Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001054699] | Chr19:50414869 [GRCh38] Chr19:50918126 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.338G>A (p.Gly113Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216045]|Hereditary cancer-predisposing syndrome [RCV002451476] | Chr19:50401799 [GRCh38] Chr19:50905056 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3203_3206dup (p.Ile1070fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001219342] | Chr19:50417253..50417254 [GRCh38] Chr19:50920510..50920511 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.974T>A (p.Ile325Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001218128] | Chr19:50403056 [GRCh38] Chr19:50906313 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1537C>G (p.Leu513Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001860694]|Hereditary cancer-predisposing syndrome [RCV001012086] | Chr19:50407025 [GRCh38] Chr19:50910282 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1939G>A (p.Val647Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001219450] | Chr19:50409168 [GRCh38] Chr19:50912425 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3187G>A (p.Gly1063Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001219516] | Chr19:50417238 [GRCh38] Chr19:50920495 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.655C>T (p.Leu219Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001040755]|Hereditary cancer-predisposing syndrome [RCV002363576] | Chr19:50402270 [GRCh38] Chr19:50905527 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1462G>A (p.Asp488Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001213227] | Chr19:50406485 [GRCh38] Chr19:50909742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3095G>C (p.Arg1032Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001246587] | Chr19:50417072 [GRCh38] Chr19:50920329 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.562C>G (p.Leu188Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001233718] | Chr19:50402097 [GRCh38] Chr19:50905354 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+2_2953+4dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001216627] | Chr19:50416529..50416530 [GRCh38] Chr19:50919786..50919787 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2903G>A (p.Arg968His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001207350] | Chr19:50416478 [GRCh38] Chr19:50919735 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1405C>T (p.Leu469Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001059552]|Hereditary cancer-predisposing syndrome [RCV002393288] | Chr19:50406428 [GRCh38] Chr19:50909685 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-10A>C | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001197722] | Chr19:50406397 [GRCh38] Chr19:50909654 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1032G>C (p.Trp344Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204563]|Hereditary cancer-predisposing syndrome [RCV002393460] | Chr19:50403114 [GRCh38] Chr19:50906371 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2909T>C (p.Phe970Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001228418] | Chr19:50416484 [GRCh38] Chr19:50919741 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589A>G (p.Ser197Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001049363] | Chr19:50402124 [GRCh38] Chr19:50905381 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.575T>C (p.Leu192Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001053989] | Chr19:50402110 [GRCh38] Chr19:50905367 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2379G>T (p.Glu793Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001064123]|Hereditary cancer-predisposing syndrome [RCV002445332] | Chr19:50413870 [GRCh38] Chr19:50917127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1931del (p.Asp644fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002549392]|Hereditary cancer-predisposing syndrome [RCV001013636] | Chr19:50409160 [GRCh38] Chr19:50912417 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1187A>C (p.Tyr396Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001247157] | Chr19:50403542 [GRCh38] Chr19:50906799 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.877T>C (p.Ser293Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001054079] | Chr19:50402648 [GRCh38] Chr19:50905905 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+2T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001054095] | Chr19:50417099 [GRCh38] Chr19:50920356 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001211440] | Chr19:50413423 [GRCh38] Chr19:50916680 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2815T>G (p.Ser939Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001064255] | Chr19:50415821 [GRCh38] Chr19:50919078 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.958G>T (p.Ala320Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001226127]|Hereditary cancer-predisposing syndrome [RCV001019517] | Chr19:50402729 [GRCh38] Chr19:50905986 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3289C>G (p.Arg1097Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001040016] | Chr19:50417912 [GRCh38] Chr19:50921169 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.512_513insTGAGCTGAACTTGGC (p.Glu167_Ala171dup) | insertion | Colorectal cancer, susceptibility to, 10 [RCV001228891] | Chr19:50402033..50402034 [GRCh38] Chr19:50905290..50905291 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001064454]|not provided [RCV001566217]|not specified [RCV003321795] | Chr19:50413524 [GRCh38] Chr19:50916781 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3311C>T (p.Pro1104Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001064534] | Chr19:50417934 [GRCh38] Chr19:50921191 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242G>A (p.Lys414=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001064594] | Chr19:50403597 [GRCh38] Chr19:50906854 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001230786]|Hereditary cancer-predisposing syndrome [RCV001009981] | Chr19:50403490 [GRCh38] Chr19:50906747 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3178C>T (p.Arg1060Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001040384] | Chr19:50417229 [GRCh38] Chr19:50920486 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3245G>A (p.Arg1082His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001040391]|not provided [RCV002274120] | Chr19:50417868 [GRCh38] Chr19:50921125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.418C>T (p.His140Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001229103] | Chr19:50401879 [GRCh38] Chr19:50905136 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001064610] | Chr19:50406327 [GRCh38] Chr19:50909584 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1221C>G (p.Ile407Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001370046]|Hereditary cancer-predisposing syndrome [RCV001010390] | Chr19:50403576 [GRCh38] Chr19:50906833 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2587C>T (p.His863Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001248254]|Hereditary cancer-predisposing syndrome [RCV002451615]|not provided [RCV002265018] | Chr19:50415460 [GRCh38] Chr19:50918717 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2685C>A (p.Ala895=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001036664] | Chr19:50415558 [GRCh38] Chr19:50918815 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2464_2465del (p.Asp822fs) | deletion | Hereditary cancer-predisposing syndrome [RCV001015620] | Chr19:50414890..50414891 [GRCh38] Chr19:50918147..50918148 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2562C>A (p.Asp854Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001212914] | Chr19:50414988 [GRCh38] Chr19:50918245 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2750G>A (p.Ser917Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051092] | Chr19:50415756 [GRCh38] Chr19:50919013 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1036G>A (p.Glu346Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051318] | Chr19:50403118 [GRCh38] Chr19:50906375 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1015T>G (p.Ser339Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001055487] | Chr19:50403097 [GRCh38] Chr19:50906354 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2641dup (p.Leu881fs) | duplication | Hereditary cancer-predisposing syndrome [RCV001016188] | Chr19:50415513..50415514 [GRCh38] Chr19:50918770..50918771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.265_266insA (p.Pro89fs) | insertion | Hereditary cancer-predisposing syndrome [RCV001016212] | Chr19:50399433..50399434 [GRCh38] Chr19:50902690..50902691 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3221G>C (p.Arg1074Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051476] | Chr19:50417844 [GRCh38] Chr19:50921101 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2434C>A (p.Leu812Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051626]|Familial colorectal cancer [RCV001535805]|Hereditary cancer-predisposing syndrome [RCV003372958] | Chr19:50414860 [GRCh38] Chr19:50918117 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_002691.4(POLD1):c.658G>T (p.Val220Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001055833] | Chr19:50402273 [GRCh38] Chr19:50905530 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1215C>G (p.Tyr405Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001055852]|not provided [RCV003117729] | Chr19:50403570 [GRCh38] Chr19:50906827 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2604C>G (p.Ile868Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001055996] | Chr19:50415477 [GRCh38] Chr19:50918734 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.237_238delinsCT (p.Trp79_Leu80delinsCysPhe) | indel | Colorectal cancer, susceptibility to, 10 [RCV001041632] | Chr19:50399405..50399406 [GRCh38] Chr19:50902662..50902663 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.28G>A (p.Gly10Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001248416] | Chr19:50398879 [GRCh38] Chr19:50902136 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1292T>C (p.Ile431Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640951]|Hereditary cancer-predisposing syndrome [RCV001010800] | Chr19:50406231 [GRCh38] Chr19:50909488 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1006C>A (p.Gln336Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016967] | Chr19:50403088 [GRCh38] Chr19:50906345 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1034G>A (p.Gly345Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526029]|Hereditary cancer-predisposing syndrome [RCV001017083] | Chr19:50403116 [GRCh38] Chr19:50906373 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1036dup (p.Glu346fs) | duplication | Hereditary cancer-predisposing syndrome [RCV001017094] | Chr19:50403112..50403113 [GRCh38] Chr19:50906369..50906370 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1082C>T (p.Ala361Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001037581]|Hereditary cancer-predisposing syndrome [RCV001017221]|not provided [RCV001766838] | Chr19:50403164 [GRCh38] Chr19:50906421 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.319C>T (p.Pro107Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001051860]|Hereditary cancer-predisposing syndrome [RCV002320288]|not provided [RCV001759987] | Chr19:50401780 [GRCh38] Chr19:50905037 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3153C>G (p.Phe1051Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001056141]|Hereditary cancer-predisposing syndrome [RCV002320304] | Chr19:50417204 [GRCh38] Chr19:50920461 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1076C>G (p.Pro359Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001202635]|Hereditary cancer-predisposing syndrome [RCV002418668] | Chr19:50403158 [GRCh38] Chr19:50906415 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2734C>T (p.Pro912Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001233579]|Hereditary cancer-predisposing syndrome [RCV002436914] | Chr19:50415740 [GRCh38] Chr19:50918997 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001036217]|Hereditary cancer-predisposing syndrome [RCV001017712]|not provided [RCV001766842] | Chr19:50402539 [GRCh38] Chr19:50905796 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3091C>T (p.Pro1031Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001069357] | Chr19:50417068 [GRCh38] Chr19:50920325 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.179C>G (p.Ser60Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001062556] | Chr19:50399030 [GRCh38] Chr19:50902287 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1415_1776-6del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001062561] | Chr19:50406435..50408776 [GRCh38] Chr19:50909692..50912033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.440A>G (p.Tyr147Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001062652] | Chr19:50401901 [GRCh38] Chr19:50905158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1555C>G (p.Pro519Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001216500] | Chr19:50407043 [GRCh38] Chr19:50910300 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1443C>T (p.Phe481=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001408805]|Hereditary cancer-predisposing syndrome [RCV001011607] | Chr19:50406466 [GRCh38] Chr19:50909723 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2987_2988insTGCAGACGGTGCTCAC (p.Gly997fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV001860875]|Hereditary cancer-predisposing syndrome [RCV001017796] | Chr19:50416630..50416631 [GRCh38] Chr19:50919887..50919888 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2990del (p.Gly997fs) | deletion | Hereditary cancer-predisposing syndrome [RCV001017809] | Chr19:50416644 [GRCh38] Chr19:50919901 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.847C>T (p.Gln283Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017879] | Chr19:50402618 [GRCh38] Chr19:50905875 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2T>C (p.Met1Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302452]|Hereditary cancer-predisposing syndrome [RCV001017954]|POLD1-related condition [RCV003413806]|not provided [RCV001759699] | Chr19:50398853 [GRCh38] Chr19:50902110 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.176A>C (p.Gln59Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001052223]|Hereditary cancer-predisposing syndrome [RCV002400301]|not provided [RCV001772258] | Chr19:50399027 [GRCh38] Chr19:50902284 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.10A>C (p.Lys4Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001052280] | Chr19:50398861 [GRCh38] Chr19:50902118 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2456A>T (p.Asp819Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001042163]|Hereditary cancer-predisposing syndrome [RCV002445235]|not provided [RCV003317420] | Chr19:50414882 [GRCh38] Chr19:50918139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1379T>G (p.Leu460Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001062952] | Chr19:50406318 [GRCh38] Chr19:50909575 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.385G>A (p.Gly129Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204743] | Chr19:50401846 [GRCh38] Chr19:50905103 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1522C>T (p.Leu508=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012000] | Chr19:50407010 [GRCh38] Chr19:50910267 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1529T>A (p.Val510Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012027] | Chr19:50407017 [GRCh38] Chr19:50910274 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3064C>T (p.Gln1022Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001204151] | Chr19:50416720 [GRCh38] Chr19:50919977 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.248C>T (p.Thr83Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001212057] | Chr19:50399416 [GRCh38] Chr19:50902673 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001063294] | Chr19:50402448 [GRCh38] Chr19:50905705 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3225C>G (p.Asp1075Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001063342] | Chr19:50417848 [GRCh38] Chr19:50921105 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+4A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012705] | Chr19:50407178 [GRCh38] Chr19:50910435 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2966del (p.Thr989fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001228599] | Chr19:50416622 [GRCh38] Chr19:50919879 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1516C>G (p.Arg506Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001215457] | Chr19:50407004 [GRCh38] Chr19:50910261 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1746_1751del (p.Gly583_Ala584del) | deletion | Hereditary cancer-predisposing syndrome [RCV001012990] | Chr19:50407385..50407390 [GRCh38] Chr19:50910642..50910647 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3300dup (p.Pro1101fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001228956] | Chr19:50417922..50417923 [GRCh38] Chr19:50921179..50921180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.481A>G (p.Met161Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001063835] | Chr19:50402016 [GRCh38] Chr19:50905273 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.712A>G (p.Thr238Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001063902] | Chr19:50402327 [GRCh38] Chr19:50905584 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1169C>T (p.Pro390Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001304747] | Chr19:50403524 [GRCh38] Chr19:50906781 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1291A>T (p.Ile431Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001313810] | Chr19:50406230 [GRCh38] Chr19:50909487 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2585C>A (p.Ala862Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001313449] | Chr19:50415458 [GRCh38] Chr19:50918715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3028A>G (p.Asn1010Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001304395] | Chr19:50416684 [GRCh38] Chr19:50919941 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.444C>G (p.Phe148Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001313611] | Chr19:50401905 [GRCh38] Chr19:50905162 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1870C>G (p.Pro624Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001349475] | Chr19:50408879 [GRCh38] Chr19:50912136 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1102G>A (p.Val368Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001349577]|Hereditary cancer-predisposing syndrome [RCV002456519] | Chr19:50403184 [GRCh38] Chr19:50906441 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 | copy number gain | not provided [RCV001259944] | Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_002691.4(POLD1):c.1355T>A (p.Val452Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001907668] | Chr19:50406294 [GRCh38] Chr19:50909551 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg) | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001290203] | Chr19:50417236 [GRCh38] Chr19:50920493 [GRCh37] Chr19:19q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.1858A>G (p.Thr620Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001908092] | Chr19:50408867 [GRCh38] Chr19:50912124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2177A>G (p.Gln726Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001313976] | Chr19:50413448 [GRCh38] Chr19:50916705 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.123G>T (p.Met41Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001304913]|Hereditary cancer-predisposing syndrome [RCV002384371] | Chr19:50398974 [GRCh38] Chr19:50902231 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3092C>T (p.Pro1031Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001297272]|Hereditary cancer-predisposing syndrome [RCV002322189] | Chr19:50417069 [GRCh38] Chr19:50920326 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1374C>A (p.Asp458Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001300326] | Chr19:50406313 [GRCh38] Chr19:50909570 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1207C>A (p.Leu403Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001324896] | Chr19:50403562 [GRCh38] Chr19:50906819 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1928G>A (p.Gly643Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001306964] | Chr19:50409157 [GRCh38] Chr19:50912414 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-7C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001339269] | Chr19:50403486 [GRCh38] Chr19:50906743 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.885G>A (p.Val295=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001301387] | Chr19:50402656 [GRCh38] Chr19:50905913 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.316+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001338686] | Chr19:50399485 [GRCh38] Chr19:50902742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50903077)_50910587del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001295583] | uncertain significance | |
NM_002691.4(POLD1):c.559G>C (p.Val187Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001326944]|Hereditary cancer-predisposing syndrome [RCV002350608] | Chr19:50402094 [GRCh38] Chr19:50905351 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.861G>T (p.Glu287Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307121]|Hereditary cancer-predisposing syndrome [RCV002375383] | Chr19:50402632 [GRCh38] Chr19:50905889 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2629G>T (p.Asp877Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001313974] | Chr19:50415502 [GRCh38] Chr19:50918759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+14_2154+15insA | insertion | none provided [RCV001287212] | Chr19:50409680..50409681 [GRCh38] Chr19:50912937..50912938 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.464-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001298182] | Chr19:50401997 [GRCh38] Chr19:50905254 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.250C>A (p.Pro84Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307790] | Chr19:50399418 [GRCh38] Chr19:50902675 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1772A>C (p.Lys591Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001338509] | Chr19:50407412 [GRCh38] Chr19:50910669 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2659C>A (p.Leu887Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001295855]|Hereditary cancer-predisposing syndrome [RCV002430081] | Chr19:50415532 [GRCh38] Chr19:50918789 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.386G>C (p.Gly129Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001337290]|Hereditary cancer-predisposing syndrome [RCV003294319] | Chr19:50401847 [GRCh38] Chr19:50905104 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3304C>G (p.Pro1102Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001317976] | Chr19:50417927 [GRCh38] Chr19:50921184 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-7_1687-3del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001325388] | Chr19:50407315..50407319 [GRCh38] Chr19:50910572..50910576 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1636C>G (p.Leu546Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001341898]|Hereditary cancer-predisposing syndrome [RCV003169630] | Chr19:50407124 [GRCh38] Chr19:50910381 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.623C>A (p.Pro208Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001299651]|Hereditary cancer-predisposing syndrome [RCV002366131] | Chr19:50402238 [GRCh38] Chr19:50905495 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.737C>A (p.Ala246Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001299676] | Chr19:50402352 [GRCh38] Chr19:50905609 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.199G>T (p.Asp67Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302416] | Chr19:50399050 [GRCh38] Chr19:50902307 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50916673)_(50921204_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001308561] | Chr19:50916673..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902109)_(50902751_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001308562] | Chr19:50902109..50902751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2735C>T (p.Pro912Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307781] | Chr19:50415741 [GRCh38] Chr19:50918998 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1093G>A (p.Gly365Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001297037] | Chr19:50403175 [GRCh38] Chr19:50906432 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.62G>A (p.Gly21Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001317793] | Chr19:50398913 [GRCh38] Chr19:50902170 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.346C>T (p.Pro116Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001318577] | Chr19:50401807 [GRCh38] Chr19:50905064 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1123G>T (p.Glu375Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001300041] | Chr19:50403205 [GRCh38] Chr19:50906462 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001294579] | Chr19:50413424 [GRCh38] Chr19:50916681 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2099T>C (p.Val700Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001321253] | Chr19:50409611 [GRCh38] Chr19:50912868 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1859C>G (p.Thr620Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001321271]|Hereditary cancer-predisposing syndrome [RCV003166860] | Chr19:50408868 [GRCh38] Chr19:50912125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.313G>A (p.Val105Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302492] | Chr19:50399481 [GRCh38] Chr19:50902738 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.584_589+12del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001352121] | Chr19:50402111..50402128 [GRCh38] Chr19:50905368..50905385 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.512_513insTGATGGC (p.Ile172fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV001339972] | Chr19:50402043..50402044 [GRCh38] Chr19:50905300..50905301 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001342470] | Chr19:50409669 [GRCh38] Chr19:50912926 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.886dup (p.Val296fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001300046] | Chr19:50402655..50402656 [GRCh38] Chr19:50905912..50905913 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.116C>T (p.Ala39Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001318604] | Chr19:50398967 [GRCh38] Chr19:50902224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.66_67insG (p.Trp23fs) | insertion | Colorectal cancer [RCV001293841] | Chr19:50398917..50398918 [GRCh38] Chr19:50902174..50902175 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_002691.4(POLD1):c.1941del (p.Lys648fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001340830] | Chr19:50409170 [GRCh38] Chr19:50912427 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3224A>G (p.Asp1075Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001296553]|Hereditary cancer-predisposing syndrome [RCV002447267] | Chr19:50417847 [GRCh38] Chr19:50921104 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2681_2682del (p.Tyr894fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001321519] | Chr19:50415553..50415554 [GRCh38] Chr19:50918810..50918811 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2773G>C (p.Val925Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001352552] | Chr19:50415779 [GRCh38] Chr19:50919036 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2751C>G (p.Ser917Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302244] | Chr19:50415757 [GRCh38] Chr19:50919014 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1621G>C (p.Val541Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001325012]|Hereditary cancer-predisposing syndrome [RCV002402910] | Chr19:50407109 [GRCh38] Chr19:50910366 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.179C>T (p.Ser60Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001318548] | Chr19:50399030 [GRCh38] Chr19:50902287 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.510G>C (p.Leu170Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001296775] | Chr19:50402045 [GRCh38] Chr19:50905302 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.649C>T (p.Pro217Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001305183]|Hereditary cancer-predisposing syndrome [RCV002366147] | Chr19:50402264 [GRCh38] Chr19:50905521 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2718-5C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001326498] | Chr19:50415719 [GRCh38] Chr19:50918976 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.949A>G (p.Ile317Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001306646]|Hereditary cancer-predisposing syndrome [RCV002375380] | Chr19:50402720 [GRCh38] Chr19:50905977 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1452G>A (p.Glu484=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001422537]|not specified [RCV003321839] | Chr19:50406475 [GRCh38] Chr19:50909732 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2444C>G (p.Ser815Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001361332] | Chr19:50414870 [GRCh38] Chr19:50918127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388+4C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001362286] | Chr19:50413883 [GRCh38] Chr19:50917140 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2094C>T (p.Asn698=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001415144] | Chr19:50409606 [GRCh38] Chr19:50912863 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1670C>T (p.Ser557Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001324920]|Hereditary cancer-predisposing syndrome [RCV002395716] | Chr19:50407158 [GRCh38] Chr19:50910415 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.934G>T (p.Val312Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001363178] | Chr19:50402705 [GRCh38] Chr19:50905962 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1168C>A (p.Pro390Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001368600] | Chr19:50403523 [GRCh38] Chr19:50906780 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.665C>G (p.Pro222Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001372452]|Hereditary cancer-predisposing syndrome [RCV002368203]|not provided [RCV001587381] | Chr19:50402280 [GRCh38] Chr19:50905537 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2463C>G (p.His821Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001325231]|Hereditary cancer-predisposing syndrome [RCV002456453] | Chr19:50414889 [GRCh38] Chr19:50918146 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.914A>G (p.Gln305Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001361735] | Chr19:50402685 [GRCh38] Chr19:50905942 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1900G>A (p.Glu634Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001367645] | Chr19:50409129 [GRCh38] Chr19:50912386 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1304C>T (p.Ser435Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001368003] | Chr19:50406243 [GRCh38] Chr19:50909500 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1380G>A (p.Leu460=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001422675]|Hereditary cancer-predisposing syndrome [RCV003160693] | Chr19:50406319 [GRCh38] Chr19:50909576 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001296046] | Chr19:50403605 [GRCh38] Chr19:50906862 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1067C>G (p.Thr356Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001368636]|Hereditary cancer-predisposing syndrome [RCV002413883] | Chr19:50403149 [GRCh38] Chr19:50906406 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2489A>T (p.Glu830Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001325556] | Chr19:50414915 [GRCh38] Chr19:50918172 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1307T>C (p.Phe436Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001359016] | Chr19:50406246 [GRCh38] Chr19:50909503 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1419G>T (p.Thr473=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001395622]|Hereditary cancer-predisposing syndrome [RCV002395885] | Chr19:50406442 [GRCh38] Chr19:50909699 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2259T>C (p.Tyr753=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001397133] | Chr19:50413750 [GRCh38] Chr19:50917007 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.480C>A (p.His160Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001325635] | Chr19:50402015 [GRCh38] Chr19:50905272 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307678] | Chr19:50415593 [GRCh38] Chr19:50918850 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001414644] | Chr19:50417038 [GRCh38] Chr19:50920295 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-8A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001397427] | Chr19:50406975 [GRCh38] Chr19:50910232 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1721A>G (p.Lys574Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001359788] | Chr19:50407361 [GRCh38] Chr19:50910618 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.505A>G (p.Asn169Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001370011] | Chr19:50402040 [GRCh38] Chr19:50905297 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.769G>A (p.Asp257Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001359979]|Hereditary cancer-predisposing syndrome [RCV002404847] | Chr19:50402464 [GRCh38] Chr19:50905721 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.592A>G (p.Met198Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001360004] | Chr19:50402207 [GRCh38] Chr19:50905464 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.956G>A (p.Cys319Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001370988] | Chr19:50402727 [GRCh38] Chr19:50905984 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3256C>A (p.Arg1086=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001396076] | Chr19:50417879 [GRCh38] Chr19:50921136 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.2(POLD1):c.587_589+1dupAGAG | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001360243]|Hereditary cancer-predisposing syndrome [RCV002357220] | Chr19:50402118..50402119 [GRCh38] Chr19:50905375..50905376 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1033G>C (p.Gly345Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001294458] | Chr19:50403115 [GRCh38] Chr19:50906372 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.190G>T (p.Gly64Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001362457] | Chr19:50399041 [GRCh38] Chr19:50902298 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2991C>A (p.Gly997=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001423109]|Hereditary cancer-predisposing syndrome [RCV002438988] | Chr19:50416647 [GRCh38] Chr19:50919904 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2773G>T (p.Val925Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001349941] | Chr19:50415779 [GRCh38] Chr19:50919036 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2285G>C (p.Arg762Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001360415] | Chr19:50413776 [GRCh38] Chr19:50917033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1595C>A (p.Ala532Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001370454] | Chr19:50407083 [GRCh38] Chr19:50910340 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.420C>T (p.His140=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001415065] | Chr19:50401881 [GRCh38] Chr19:50905138 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.269dup (p.Thr91fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001324536] | Chr19:50399436..50399437 [GRCh38] Chr19:50902693..50902694 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3293G>C (p.Arg1098Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371812] | Chr19:50417916 [GRCh38] Chr19:50921173 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001372963] | Chr19:50409516 [GRCh38] Chr19:50912773 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893-5C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001349948] | Chr19:50409117 [GRCh38] Chr19:50912374 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.576G>C (p.Leu192=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001396893]|Hereditary cancer-predisposing syndrome [RCV002357313] | Chr19:50402111 [GRCh38] Chr19:50905368 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3295T>A (p.Phe1099Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001315471] | Chr19:50417918 [GRCh38] Chr19:50921175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.930_931delinsTT (p.Leu310_Arg311delinsPheCys) | indel | Colorectal cancer, susceptibility to, 10 [RCV001295186] | Chr19:50402701..50402702 [GRCh38] Chr19:50905958..50905959 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2343G>C (p.Trp781Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001361148] | Chr19:50413834 [GRCh38] Chr19:50917091 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2965A>G (p.Thr989Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001373926] | Chr19:50416621 [GRCh38] Chr19:50919878 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+49C>T | single nucleotide variant | not provided [RCV001536849]|not specified [RCV002268509] | Chr19:50402790 [GRCh38] Chr19:50906047 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_002691.4(POLD1):c.2599G>T (p.Val867Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001343446] | Chr19:50415472 [GRCh38] Chr19:50918729 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2303_2305del (p.Val768del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001368243]|Hereditary cancer-predisposing syndrome [RCV002447479] | Chr19:50413792..50413794 [GRCh38] Chr19:50917049..50917051 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2227A>T (p.Asn743Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001368311] | Chr19:50413498 [GRCh38] Chr19:50916755 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1162A>G (p.Met388Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001364017]|Hereditary cancer-predisposing syndrome [RCV002357241] | Chr19:50403517 [GRCh38] Chr19:50906774 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.190G>C (p.Gly64Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001364087] | Chr19:50399041 [GRCh38] Chr19:50902298 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.952G>C (p.Glu318Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001306412]|Hereditary cancer-predisposing syndrome [RCV003166741] | Chr19:50402723 [GRCh38] Chr19:50905980 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50905025)_(50921204_?)del | deletion | Colorectal cancer 10 [RCV001308563] | Chr19:50905025..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50912032)_(50921204_?)dup | duplication | Colorectal cancer 10 [RCV001308564] | Chr19:50912032..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902109)_(50902751_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001308565] | Chr19:50902109..50902751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.4G>C (p.Asp2His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001343532]|not provided [RCV003238350] | Chr19:50398855 [GRCh38] Chr19:50902112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.521G>T (p.Arg174Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001323845] | Chr19:50402056 [GRCh38] Chr19:50905313 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2026A>T (p.Lys676Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371093] | Chr19:50409538 [GRCh38] Chr19:50912795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.737C>G (p.Ala246Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001364171] | Chr19:50402352 [GRCh38] Chr19:50905609 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717G>A (p.Arg906Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001364195] | Chr19:50415590 [GRCh38] Chr19:50918847 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2713G>A (p.Glu905Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001348933]|Hereditary cancer-predisposing syndrome [RCV002431985]|not provided [RCV001545543] | Chr19:50415586 [GRCh38] Chr19:50918843 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902622)_(50905187_?)del | deletion | Colorectal cancer 10 [RCV001322900] | Chr19:50902622..50905187 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50905025)_(50905640_?)del | deletion | Colorectal cancer 10 [RCV001322901] | Chr19:50905025..50905640 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50912766)_(50919795_?)dup | duplication | Colorectal cancer 10 [RCV001322902] | Chr19:50912766..50919795 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50920292)_(50920536_?)dup | duplication | Colorectal cancer 10 [RCV001322903] | Chr19:50920292..50920536 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2875G>A (p.Glu959Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371290] | Chr19:50416450 [GRCh38] Chr19:50919707 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50905025)_(50912933_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001364901] | Chr19:50905025..50912933 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3277dup (p.Glu1093fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001320156] | Chr19:50417898..50417899 [GRCh38] Chr19:50921155..50921156 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2995G>A (p.Val999Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371548]|POLD1-related condition [RCV003399179] | Chr19:50416651 [GRCh38] Chr19:50919908 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.335C>T (p.Pro112Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001345904] | Chr19:50401796 [GRCh38] Chr19:50905053 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1141T>A (p.Trp381Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001365166] | Chr19:50403496 [GRCh38] Chr19:50906753 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.160GAG[6] (p.Glu56_Glu57dup) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001349427] | Chr19:50399008..50399009 [GRCh38] Chr19:50902265..50902266 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.151CAGGAG[3] (p.51QE[3]) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001349438]|not provided [RCV003225181] | Chr19:50399000..50399001 [GRCh38] Chr19:50902257..50902258 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001352117] | Chr19:50403598 [GRCh38] Chr19:50906855 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50909693)_50912034del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001338731] | uncertain significance | |
NM_002691.4(POLD1):c.844A>G (p.Thr282Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001309788] | Chr19:50402615 [GRCh38] Chr19:50905872 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464-10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001346960] | Chr19:50401989 [GRCh38] Chr19:50905246 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1355T>C (p.Val452Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001318947] | Chr19:50406294 [GRCh38] Chr19:50909551 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1398G>T (p.Glu466Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001322033] | Chr19:50406421 [GRCh38] Chr19:50909678 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893C>T (p.Gly631=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001323112]|Hereditary cancer-predisposing syndrome [RCV002412034] | Chr19:50409122 [GRCh38] Chr19:50912379 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2859C>G (p.Asp953Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001346056] | Chr19:50416434 [GRCh38] Chr19:50919691 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902099)_(50917146_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001374047] | Chr19:50902099..50917146 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50919077)_50920308del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001374048] | uncertain significance | |
NM_002691.4(POLD1):c.1360del (p.Arg454fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001305705] | Chr19:50406298 [GRCh38] Chr19:50909555 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2184C>G (p.Ile728Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001306952]|Hereditary cancer-predisposing syndrome [RCV002430116] | Chr19:50413455 [GRCh38] Chr19:50916712 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1849T>G (p.Cys617Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307673] | Chr19:50408858 [GRCh38] Chr19:50912115 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.359G>A (p.Gly120Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307739] | Chr19:50401820 [GRCh38] Chr19:50905077 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1117_1119del (p.Lys373del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001341047]|Hereditary cancer-predisposing syndrome [RCV002438780] | Chr19:50403197..50403199 [GRCh38] Chr19:50906454..50906456 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.740A>G (p.Asn247Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001346124]|Hereditary cancer-predisposing syndrome [RCV002384478] | Chr19:50402355 [GRCh38] Chr19:50905612 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1855A>G (p.Thr619Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001347164] | Chr19:50408864 [GRCh38] Chr19:50912121 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3297C>G (p.Phe1099Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001347233] | Chr19:50417920 [GRCh38] Chr19:50921177 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3313G>C (p.Glu1105Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001295306] | Chr19:50417936 [GRCh38] Chr19:50921193 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.789C>T (p.Cys263=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001319016]|Hereditary cancer-predisposing syndrome [RCV002412028] | Chr19:50402484 [GRCh38] Chr19:50905741 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2407C>A (p.Leu803Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001310048] | Chr19:50414833 [GRCh38] Chr19:50918090 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2662A>G (p.Thr888Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001322192] | Chr19:50415535 [GRCh38] Chr19:50918792 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1091T>G (p.Leu364Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001323257]|Hereditary cancer-predisposing syndrome [RCV002447368] | Chr19:50403173 [GRCh38] Chr19:50906430 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1612G>A (p.Val538Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001325763] | Chr19:50407100 [GRCh38] Chr19:50910357 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2389-1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001345206] | Chr19:50414814 [GRCh38] Chr19:50918071 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1961G>T (p.Gly654Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001347421] | Chr19:50409190 [GRCh38] Chr19:50912447 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.424del (p.His142fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001361653] | Chr19:50401884 [GRCh38] Chr19:50905141 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.382T>G (p.Phe128Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307903] | Chr19:50401843 [GRCh38] Chr19:50905100 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3315G>A (p.Glu1105=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001339962]|Hereditary cancer-predisposing syndrome [RCV002456476] | Chr19:50417938 [GRCh38] Chr19:50921195 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1573C>G (p.Arg525Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001317944] | Chr19:50407061 [GRCh38] Chr19:50910318 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.863C>T (p.Ala288Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001323465]|not provided [RCV003127802] | Chr19:50402634 [GRCh38] Chr19:50905891 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.921T>G (p.Ile307Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001299447] | Chr19:50402692 [GRCh38] Chr19:50905949 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.773C>G (p.Thr258Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001341430] | Chr19:50402468 [GRCh38] Chr19:50905725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1070_1084del (p.Leu357_Ala361del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001300893]|Hereditary cancer-predisposing syndrome [RCV002411955] | Chr19:50403149..50403163 [GRCh38] Chr19:50906406..50906420 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902103)_(50906860_?)del | deletion | Colorectal cancer 10 [RCV001319457] | Chr19:50902103..50906860 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.902A>C (p.Glu301Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001321021] | Chr19:50402673 [GRCh38] Chr19:50905930 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2507A>T (p.Asn836Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001322476] | Chr19:50414933 [GRCh38] Chr19:50918190 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.653G>C (p.Arg218Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001323517] | Chr19:50402268 [GRCh38] Chr19:50905525 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.140A>G (p.Glu47Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001373034] | Chr19:50398991 [GRCh38] Chr19:50902248 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.40C>T (p.Pro14Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001363620]|Hereditary cancer-predisposing syndrome [RCV002322332] | Chr19:50398891 [GRCh38] Chr19:50902148 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2668G>C (p.Ala890Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001295553] | Chr19:50415541 [GRCh38] Chr19:50918798 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.523G>C (p.Asp175His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001351522] | Chr19:50402058 [GRCh38] Chr19:50905315 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2414G>A (p.Ser805Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001316287] | Chr19:50414840 [GRCh38] Chr19:50918097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1375A>C (p.Met459Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384405] | Chr19:50406314 [GRCh38] Chr19:50909571 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2461C>T (p.His821Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001341560]|Hereditary cancer-predisposing syndrome [RCV002456481] | Chr19:50414887 [GRCh38] Chr19:50918144 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.331G>T (p.Val111Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001321142] | Chr19:50401792 [GRCh38] Chr19:50905049 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+2T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001344430] | Chr19:50403599 [GRCh38] Chr19:50906856 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1473C>G (p.His491Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001322531]|Hereditary cancer-predisposing syndrome [RCV003166876] | Chr19:50406496 [GRCh38] Chr19:50909753 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.193G>T (p.Val65Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001344439] | Chr19:50399044 [GRCh38] Chr19:50902301 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2001G>T (p.Arg667=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001322633] | Chr19:50409230 [GRCh38] Chr19:50912487 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2942_2953+2del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001322639] | Chr19:50416517..50416530 [GRCh38] Chr19:50919774..50919787 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3179G>T (p.Arg1060Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001364415] | Chr19:50417230 [GRCh38] Chr19:50920487 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.506_547del (p.Asn169_Leu182del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001370982] | Chr19:50402032..50402073 [GRCh38] Chr19:50905289..50905330 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.37G>C (p.Val13Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001360082] | Chr19:50398888 [GRCh38] Chr19:50902145 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.436C>G (p.Pro146Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001318282] | Chr19:50401897 [GRCh38] Chr19:50905154 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001301135] | Chr19:50417038 [GRCh38] Chr19:50920295 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1913T>G (p.Ile638Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001301166] | Chr19:50409142 [GRCh38] Chr19:50912399 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1923dup (p.Thr642fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001323709] | Chr19:50409147..50409148 [GRCh38] Chr19:50912404..50912405 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2825C>A (p.Pro942Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302900] | Chr19:50416400 [GRCh38] Chr19:50919657 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+4T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001366167] | Chr19:50414994 [GRCh38] Chr19:50918251 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3094C>A (p.Arg1032=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001413374]|Hereditary cancer-predisposing syndrome [RCV002322415] | Chr19:50417071 [GRCh38] Chr19:50920328 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2786C>G (p.Ala929Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001351750]|Hereditary cancer-predisposing syndrome [RCV002438817] | Chr19:50415792 [GRCh38] Chr19:50919049 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.791A>G (p.Asn264Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001369801]|Hereditary cancer-predisposing syndrome [RCV002420825] | Chr19:50402486 [GRCh38] Chr19:50905743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2448C>T (p.Ser816=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001395641] | Chr19:50414874 [GRCh38] Chr19:50918131 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2815T>C (p.Ser939Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001304814]|Hereditary cancer-predisposing syndrome [RCV002437036] | Chr19:50415821 [GRCh38] Chr19:50919078 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.169G>A (p.Glu57Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001350308]|not provided [RCV001773702] | Chr19:50399020 [GRCh38] Chr19:50902277 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1484C>G (p.Thr495Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001352340]|Hereditary cancer-predisposing syndrome [RCV002395784] | Chr19:50406507 [GRCh38] Chr19:50909764 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001360023] | Chr19:50417163 [GRCh38] Chr19:50920420 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2914C>T (p.Pro972Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001360055] | Chr19:50416489 [GRCh38] Chr19:50919746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.517A>G (p.Ser173Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001351905] | Chr19:50402052 [GRCh38] Chr19:50905309 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.212C>T (p.Pro71Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001299619] | Chr19:50399380 [GRCh38] Chr19:50902637 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1139C>T (p.Ala380Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001340304] | Chr19:50403494 [GRCh38] Chr19:50906751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.74A>G (p.Asp25Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371115] | Chr19:50398925 [GRCh38] Chr19:50902182 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3026G>T (p.Arg1009Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001366547] | Chr19:50416682 [GRCh38] Chr19:50919939 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.706C>T (p.Leu236=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001413795]|Hereditary cancer-predisposing syndrome [RCV003160657] | Chr19:50402321 [GRCh38] Chr19:50905578 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1971C>T (p.Pro657=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001413842] | Chr19:50409200 [GRCh38] Chr19:50912457 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001421769] | Chr19:50409113 [GRCh38] Chr19:50912370 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2450G>C (p.Arg817Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001366754] | Chr19:50414876 [GRCh38] Chr19:50918133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg) | single nucleotide variant | Intellectual disability [RCV001376080]|not provided [RCV003325312] | Chr19:50417842 [GRCh38] Chr19:50921099 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_002691.4(POLD1):c.529C>G (p.Arg177Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001366860] | Chr19:50402064 [GRCh38] Chr19:50905321 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1904dup (p.Asp635fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001367658] | Chr19:50409132..50409133 [GRCh38] Chr19:50912389..50912390 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.703G>A (p.Gly235Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001367686] | Chr19:50402318 [GRCh38] Chr19:50905575 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2241C>T (p.Thr747=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001412601]|Hereditary cancer-predisposing syndrome [RCV002432139] | Chr19:50413512 [GRCh38] Chr19:50916769 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-10del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001394820] | Chr19:50406397 [GRCh38] Chr19:50909654 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.505A>C (p.Asn169His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307410] | Chr19:50402040 [GRCh38] Chr19:50905297 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1971C>G (p.Pro657=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001421871] | Chr19:50409200 [GRCh38] Chr19:50912457 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.636C>T (p.Ile212=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001421262]|Hereditary cancer-predisposing syndrome [RCV003160687] | Chr19:50402251 [GRCh38] Chr19:50905508 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.69G>A (p.Trp23Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001310025] | Chr19:50398920 [GRCh38] Chr19:50902177 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2520G>A (p.Val840=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371708] | Chr19:50414946 [GRCh38] Chr19:50918203 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.135G>A (p.Glu45=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001412765] | Chr19:50398986 [GRCh38] Chr19:50902243 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1730G>A (p.Gly577Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001307129]|Hereditary cancer-predisposing syndrome [RCV003373121]|not provided [RCV003442835] | Chr19:50407370 [GRCh38] Chr19:50910627 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2337G>T (p.Ala779=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001395172] | Chr19:50413828 [GRCh38] Chr19:50917085 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.476_497dup (p.Arg166_Glu167insAlaHisGlyTer) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001327563] | Chr19:50402008..50402009 [GRCh38] Chr19:50905265..50905266 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1101G>A (p.Lys367=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001316779] | Chr19:50403183 [GRCh38] Chr19:50906440 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-2_349del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001371741]|Hereditary cancer-predisposing syndrome [RCV002322354] | Chr19:50401770..50401804 [GRCh38] Chr19:50905027..50905061 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.306C>A (p.Asp102Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001302632] | Chr19:50399474 [GRCh38] Chr19:50902731 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001316289] | Chr19:50403051 [GRCh38] Chr19:50906308 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2382T>G (p.Phe794Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001371980] | Chr19:50413873 [GRCh38] Chr19:50917130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-1-12C>T | single nucleotide variant | Carcinoma of colon [RCV001357997] | Chr19:50398839 [GRCh38] Chr19:50902096 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50906740)_(50921204_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001351442] | Chr19:50906740..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.124G>A (p.Glu42Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001337310] | Chr19:50398975 [GRCh38] Chr19:50902232 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2112T>C (p.Thr704=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001395183] | Chr19:50409624 [GRCh38] Chr19:50912881 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.358G>T (p.Gly120Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001352088] | Chr19:50401819 [GRCh38] Chr19:50905076 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.268C>G (p.Gln90Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001369602] | Chr19:50399436 [GRCh38] Chr19:50902693 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.345C>T (p.Pro115=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001494918]|Hereditary cancer-predisposing syndrome [RCV002334531] | Chr19:50401806 [GRCh38] Chr19:50905063 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2961C>G (p.Asp987Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001315301] | Chr19:50416617 [GRCh38] Chr19:50919874 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.718A>G (p.Ser240Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001315305]|Hereditary cancer-predisposing syndrome [RCV003294264] | Chr19:50402333 [GRCh38] Chr19:50905590 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001339410] | Chr19:50406176 [GRCh38] Chr19:50909433 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.686_687del (p.Gln229fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001295560] | Chr19:50402301..50402302 [GRCh38] Chr19:50905558..50905559 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2153A>T (p.Gln718Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001370460] | Chr19:50409665 [GRCh38] Chr19:50912922 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2658G>A (p.Glu886=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001412419] | Chr19:50415531 [GRCh38] Chr19:50918788 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2445C>G (p.Ser815=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001495016] | Chr19:50414871 [GRCh38] Chr19:50918128 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1095T>C (p.Gly365=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001505524]|Hereditary cancer-predisposing syndrome [RCV002424940] | Chr19:50403177 [GRCh38] Chr19:50906434 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2850G>A (p.Leu950=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001490372]|not provided [RCV001762700] | Chr19:50416425 [GRCh38] Chr19:50919682 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2007-9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402088] | Chr19:50409510 [GRCh38] Chr19:50912767 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.267C>T (p.Pro89=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001458115]|Hereditary cancer-predisposing syndrome [RCV002432279] | Chr19:50399435 [GRCh38] Chr19:50902692 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2071C>T (p.Leu691=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001453965]|Hereditary cancer-predisposing syndrome [RCV003298778]|not specified [RCV003321845] | Chr19:50409583 [GRCh38] Chr19:50912840 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2235C>T (p.Tyr745=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001487606]|Hereditary cancer-predisposing syndrome [RCV002421117] | Chr19:50413506 [GRCh38] Chr19:50916763 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.810T>G (p.Ala270=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001475214] | Chr19:50402505 [GRCh38] Chr19:50905762 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.504G>A (p.Leu168=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001475219]|Hereditary cancer-predisposing syndrome [RCV002342070] | Chr19:50402039 [GRCh38] Chr19:50905296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1806C>T (p.Asp602=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001485777] | Chr19:50408815 [GRCh38] Chr19:50912072 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.216A>G (p.Pro72=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001470388] | Chr19:50399384 [GRCh38] Chr19:50902641 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2187G>A (p.Glu729=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001487687] | Chr19:50413458 [GRCh38] Chr19:50916715 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001487704] | Chr19:50402748 [GRCh38] Chr19:50906005 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.663C>T (p.Ala221=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001458793] | Chr19:50402278 [GRCh38] Chr19:50905535 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2190A>G (p.Lys730=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001479697] | Chr19:50413461 [GRCh38] Chr19:50916718 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3007C>T (p.Leu1003=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001458672]|Hereditary cancer-predisposing syndrome [RCV002439085] | Chr19:50416663 [GRCh38] Chr19:50919920 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1677G>C (p.Leu559=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001451459] | Chr19:50407165 [GRCh38] Chr19:50910422 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1812C>G (p.Ser604=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001457668] | Chr19:50408821 [GRCh38] Chr19:50912078 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-8G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001473707] | Chr19:50416388 [GRCh38] Chr19:50919645 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.963C>A (p.Gly321=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001476203]|Hereditary cancer-predisposing syndrome [RCV002384769] | Chr19:50402734 [GRCh38] Chr19:50905991 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1444C>T (p.Leu482=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402601] | Chr19:50406467 [GRCh38] Chr19:50909724 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3051A>G (p.Thr1017=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402606]|not provided [RCV003416320] | Chr19:50416707 [GRCh38] Chr19:50919964 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001484915] | Chr19:50401771 [GRCh38] Chr19:50905028 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.96C>G (p.Ser32=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001471123]|Hereditary cancer-predisposing syndrome [RCV003160908] | Chr19:50398947 [GRCh38] Chr19:50902204 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-8dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001491275] | Chr19:50413733..50413734 [GRCh38] Chr19:50916990..50916991 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+8_1137+9del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001468963] | Chr19:50403224..50403225 [GRCh38] Chr19:50906481..50906482 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.441C>T (p.Tyr147=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001459131]|Hereditary cancer-predisposing syndrome [RCV002329527] | Chr19:50401902 [GRCh38] Chr19:50905159 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2551C>T (p.Leu851=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001502747]|Hereditary cancer-predisposing syndrome [RCV002424932] | Chr19:50414977 [GRCh38] Chr19:50918234 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2823C>T (p.Asp941=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001476832]|Hereditary cancer-predisposing syndrome [RCV002439141] | Chr19:50416398 [GRCh38] Chr19:50919655 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001425838]|not specified [RCV001820121] | Chr19:50415431 [GRCh38] Chr19:50918688 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1470G>A (p.Gln490=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001482899] | Chr19:50406493 [GRCh38] Chr19:50909750 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2352T>C (p.Gly784=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001431282]|Hereditary cancer-predisposing syndrome [RCV002449169] | Chr19:50413843 [GRCh38] Chr19:50917100 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+8_1892+15dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001499611] | Chr19:50408907..50408908 [GRCh38] Chr19:50912164..50912165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2853C>T (p.Pro951=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001479494]|POLD1-related condition [RCV003900658] | Chr19:50416428 [GRCh38] Chr19:50919685 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-10T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001482991] | Chr19:50406172 [GRCh38] Chr19:50909429 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001489069] | Chr19:50416538 [GRCh38] Chr19:50919795 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3225C>T (p.Asp1075=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001480754] | Chr19:50417848 [GRCh38] Chr19:50921105 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2703G>A (p.Val901=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001403308]|Hereditary cancer-predisposing syndrome [RCV002432112] | Chr19:50415576 [GRCh38] Chr19:50918833 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1917G>A (p.Arg639=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001475777]|Hereditary cancer-predisposing syndrome [RCV003375313] | Chr19:50409146 [GRCh38] Chr19:50912403 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-6A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001501143] | Chr19:50409116 [GRCh38] Chr19:50912373 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3105G>A (p.Glu1035=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001491720] | Chr19:50417082 [GRCh38] Chr19:50920339 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2553G>A (p.Leu851=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001415866]|Hereditary cancer-predisposing syndrome [RCV002432153] | Chr19:50414979 [GRCh38] Chr19:50918236 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1719G>A (p.Val573=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001440041] | Chr19:50407359 [GRCh38] Chr19:50910616 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1086C>A (p.Pro362=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001506272]|Hereditary cancer-predisposing syndrome [RCV002255677] | Chr19:50403168 [GRCh38] Chr19:50906425 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2205G>A (p.Val735=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001489827]|Hereditary cancer-predisposing syndrome [RCV002432376] | Chr19:50413476 [GRCh38] Chr19:50916733 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3148del (p.Arg1050fs) | deletion | Carcinoma of pancreas [RCV001391200] | Chr19:50417199 [GRCh38] Chr19:50920456 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_002691.4(POLD1):c.2954-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001398624] | Chr19:50416603 [GRCh38] Chr19:50919860 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1269T>C (p.Arg423=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001474881] | Chr19:50406208 [GRCh38] Chr19:50909465 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.207G>A (p.Gln69=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001493631]|Hereditary cancer-predisposing syndrome [RCV002421131] | Chr19:50399375 [GRCh38] Chr19:50902632 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.783C>A (p.Val261=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001478756]|Hereditary cancer-predisposing syndrome [RCV002414157] | Chr19:50402478 [GRCh38] Chr19:50905735 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.990G>A (p.Glu330=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001429911] | Chr19:50403072 [GRCh38] Chr19:50906329 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3009G>T (p.Leu1003=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001435528]|Hereditary cancer-predisposing syndrome [RCV002255668] | Chr19:50416665 [GRCh38] Chr19:50919922 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1537C>T (p.Leu513=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001428049] | Chr19:50407025 [GRCh38] Chr19:50910282 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.954G>A (p.Glu318=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001443768]|Hereditary cancer-predisposing syndrome [RCV003160788] | Chr19:50402725 [GRCh38] Chr19:50905982 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1506C>T (p.Asp502=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402120]|Hereditary cancer-predisposing syndrome [RCV002395909] | Chr19:50406994 [GRCh38] Chr19:50910251 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1987C>T (p.Leu663=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001399894] | Chr19:50409216 [GRCh38] Chr19:50912473 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+7A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001434291] | Chr19:50409673 [GRCh38] Chr19:50912930 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2439C>T (p.Leu813=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001428867] | Chr19:50414865 [GRCh38] Chr19:50918122 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2556C>T (p.Leu852=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001407204] | Chr19:50414982 [GRCh38] Chr19:50918239 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2649C>A (p.Ile883=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001444162] | Chr19:50415522 [GRCh38] Chr19:50918779 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.720C>T (p.Ser240=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001399327]|Hereditary cancer-predisposing syndrome [RCV003298652] | Chr19:50402335 [GRCh38] Chr19:50905592 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001430746] | Chr19:50417833 [GRCh38] Chr19:50921090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2544G>C (p.Leu848=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001430775] | Chr19:50414970 [GRCh38] Chr19:50918227 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.531C>G (p.Arg177=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001446840] | Chr19:50402066 [GRCh38] Chr19:50905323 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.984G>A (p.Glu328=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001446741] | Chr19:50403066 [GRCh38] Chr19:50906323 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+7G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001402693] | Chr19:50403604 [GRCh38] Chr19:50906861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1899T>C (p.Thr633=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001407751] | Chr19:50409128 [GRCh38] Chr19:50912385 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.856C>T (p.Leu286=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001407905]|Hereditary cancer-predisposing syndrome [RCV002449108] | Chr19:50402627 [GRCh38] Chr19:50905884 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001447061] | Chr19:50416536 [GRCh38] Chr19:50919793 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.172C>T (p.Leu58=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001407929]|Hereditary cancer-predisposing syndrome [RCV002404956]|not provided [RCV001751756] | Chr19:50399023 [GRCh38] Chr19:50902280 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
POLD1, ARG1074TRP | variation | not provided [RCV001449563] | Chr19:19q13.33 | uncertain significance |
NM_002691.4(POLD1):c.1407C>A (p.Leu469=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001403126] | Chr19:50406430 [GRCh38] Chr19:50909687 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.459C>T (p.Pro153=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001429276] | Chr19:50401920 [GRCh38] Chr19:50905177 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2580G>C (p.Ala860=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001447403] | Chr19:50415453 [GRCh38] Chr19:50918710 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001447545] | Chr19:50401931 [GRCh38] Chr19:50905188 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+8G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001410623] | Chr19:50415598 [GRCh38] Chr19:50918855 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2049C>A (p.Arg683=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001431359]|Hereditary cancer-predisposing syndrome [RCV003160729] | Chr19:50409561 [GRCh38] Chr19:50912818 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001398168] | Chr19:50402605 [GRCh38] Chr19:50905862 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001445116] | Chr19:50407318 [GRCh38] Chr19:50910575 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2790C>G (p.Ala930=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001408562] | Chr19:50415796 [GRCh38] Chr19:50919053 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2925C>G (p.Gly975=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001411018] | Chr19:50416500 [GRCh38] Chr19:50919757 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001440149] | Chr19:50399063 [GRCh38] Chr19:50902320 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3267G>A (p.Leu1089=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001445432]|Hereditary cancer-predisposing syndrome [RCV002322474] | Chr19:50417890 [GRCh38] Chr19:50921147 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.192G>C (p.Gly64=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001447885] | Chr19:50399043 [GRCh38] Chr19:50902300 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2673C>T (p.Ala891=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001427164]|Hereditary cancer-predisposing syndrome [RCV003375294] | Chr19:50415546 [GRCh38] Chr19:50918803 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001401631] | Chr19:50417166 [GRCh38] Chr19:50920423 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2115C>A (p.Gly705=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001400319] | Chr19:50409627 [GRCh38] Chr19:50912884 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2766C>T (p.Val922=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001428442] | Chr19:50415772 [GRCh38] Chr19:50919029 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2715G>A (p.Glu905=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001435200]|Hereditary cancer-predisposing syndrome [RCV002256778] | Chr19:50415588 [GRCh38] Chr19:50918845 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2139C>T (p.Cys713=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001409082]|Hereditary cancer-predisposing syndrome [RCV002432132] | Chr19:50409651 [GRCh38] Chr19:50912908 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001418146]|not provided [RCV002259394] | Chr19:50406979 [GRCh38] Chr19:50910236 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3120+10C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001401799] | Chr19:50417107 [GRCh38] Chr19:50920364 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1558C>T (p.Leu520=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001406530]|Hereditary cancer-predisposing syndrome [RCV003170027] | Chr19:50407046 [GRCh38] Chr19:50910303 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.609G>T (p.Gly203=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001416806]|Hereditary cancer-predisposing syndrome [RCV002358932] | Chr19:50402224 [GRCh38] Chr19:50905481 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2253G>C (p.Val751=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001394241] | Chr19:50413744 [GRCh38] Chr19:50917001 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1089C>T (p.Ile363=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001432480] | Chr19:50403171 [GRCh38] Chr19:50906428 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2958G>A (p.Gly986=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001472508]|Hereditary cancer-predisposing syndrome [RCV002439124] | Chr19:50416614 [GRCh38] Chr19:50919871 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3214A>G (p.Thr1072Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447251]|Mandibular hypoplasia-deafness-progeroid syndrome [RCV001530959] | Chr19:50417265 [GRCh38] Chr19:50920522 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
NM_002691.4(POLD1):c.2565-63G>C | single nucleotide variant | not provided [RCV001540194] | Chr19:50415375 [GRCh38] Chr19:50918632 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-39A>G | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001789468]|not provided [RCV001648642]|not specified [RCV003487597] | Chr19:50416571 [GRCh38] Chr19:50919828 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.758+10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001450699] | Chr19:50402383 [GRCh38] Chr19:50905640 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-4A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001485983] | Chr19:50401774 [GRCh38] Chr19:50905031 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.118C>T (p.Leu40=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001490237]|Hereditary cancer-predisposing syndrome [RCV002351017] | Chr19:50398969 [GRCh38] Chr19:50902226 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1689C>A (p.Ala563=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001473237]|Hereditary cancer-predisposing syndrome [RCV002405112] | Chr19:50407329 [GRCh38] Chr19:50910586 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.618C>T (p.Pro206=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001454410]|Hereditary cancer-predisposing syndrome [RCV002359012] | Chr19:50402233 [GRCh38] Chr19:50905490 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+263A>G | single nucleotide variant | not provided [RCV001617580] | Chr19:50399747 [GRCh38] Chr19:50903004 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.3219-160_3219-157del | deletion | not provided [RCV001655433] | Chr19:50417679..50417682 [GRCh38] Chr19:50920936..50920939 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1305A>C (p.Ser435=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001458188] | Chr19:50406244 [GRCh38] Chr19:50909501 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2739G>A (p.Gly913=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001462011] | Chr19:50415745 [GRCh38] Chr19:50919002 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2526C>T (p.Asn842=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001486035] | Chr19:50414952 [GRCh38] Chr19:50918209 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2676C>G (p.Ser892=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001479416] | Chr19:50415549 [GRCh38] Chr19:50918806 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.150G>A (p.Leu50=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001502876] | Chr19:50399001 [GRCh38] Chr19:50902258 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2949A>G (p.Leu983=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001502909]|Hereditary cancer-predisposing syndrome [RCV002439200] | Chr19:50416524 [GRCh38] Chr19:50919781 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-4C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001506477] | Chr19:50406979 [GRCh38] Chr19:50910236 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1854C>T (p.Tyr618=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001486331] | Chr19:50408863 [GRCh38] Chr19:50912120 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.792C>T (p.Asn264=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001486332] | Chr19:50402487 [GRCh38] Chr19:50905744 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-109A>C | single nucleotide variant | not provided [RCV001593577] | Chr19:50406874 [GRCh38] Chr19:50910131 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.168G>A (p.Glu56=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001465591] | Chr19:50399019 [GRCh38] Chr19:50902276 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-83dup | duplication | not provided [RCV001713162] | Chr19:50408690..50408691 [GRCh38] Chr19:50911947..50911948 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1495-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001476032] | Chr19:50406974 [GRCh38] Chr19:50910231 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.51G>A (p.Arg17=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001506905] | Chr19:50398902 [GRCh38] Chr19:50902159 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+151T>C | single nucleotide variant | not provided [RCV001608866] | Chr19:50403748 [GRCh38] Chr19:50907005 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.918C>T (p.Arg306=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001496875]|Hereditary cancer-predisposing syndrome [RCV002449313] | Chr19:50402689 [GRCh38] Chr19:50905946 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2202G>A (p.Leu734=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001469596] | Chr19:50413473 [GRCh38] Chr19:50916730 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2946G>A (p.Val982=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001479820] | Chr19:50416521 [GRCh38] Chr19:50919778 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001483489] | Chr19:50415834 [GRCh38] Chr19:50919091 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-212C>G | single nucleotide variant | not provided [RCV001587556] | Chr19:50413214 [GRCh38] Chr19:50916471 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2817G>C (p.Ser939=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001480538]|Hereditary cancer-predisposing syndrome [RCV003375318] | Chr19:50415823 [GRCh38] Chr19:50919080 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3288G>A (p.Leu1096=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001459839]|Hereditary cancer-predisposing syndrome [RCV003298796] | Chr19:50417911 [GRCh38] Chr19:50921168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001504245] | Chr19:50409674 [GRCh38] Chr19:50912931 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001498133] | Chr19:50416389 [GRCh38] Chr19:50919646 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2901G>A (p.Leu967=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001488279] | Chr19:50416476 [GRCh38] Chr19:50919733 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+31A>G | single nucleotide variant | not provided [RCV001618195]|not specified [RCV002268540] | Chr19:50402155 [GRCh38] Chr19:50905412 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2667C>A (p.Arg889=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001478097]|Hereditary cancer-predisposing syndrome [RCV002432337] | Chr19:50415540 [GRCh38] Chr19:50918797 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001471596] | Chr19:50407322 [GRCh38] Chr19:50910579 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001453666] | Chr19:50408909 [GRCh38] Chr19:50912166 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2827C>T (p.Leu943=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001460957] | Chr19:50416402 [GRCh38] Chr19:50919659 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1413C>T (p.Ser471=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001464103]|Hereditary cancer-predisposing syndrome [RCV002396094] | Chr19:50406436 [GRCh38] Chr19:50909693 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1065C>T (p.Leu355=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001485293]|Hereditary cancer-predisposing syndrome [RCV002414176] | Chr19:50403147 [GRCh38] Chr19:50906404 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2613G>C (p.Leu871=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001489211] | Chr19:50415486 [GRCh38] Chr19:50918743 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-332C>A | single nucleotide variant | not provided [RCV001619089] | Chr19:50405850 [GRCh38] Chr19:50909107 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2988G>T (p.Thr996=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001439236] | Chr19:50416644 [GRCh38] Chr19:50919901 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2841G>A (p.Glu947=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001441978]|Hereditary cancer-predisposing syndrome [RCV002439040] | Chr19:50416416 [GRCh38] Chr19:50919673 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001497559] | Chr19:50416536 [GRCh38] Chr19:50919793 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2862G>T (p.Thr954=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001436044]|Hereditary cancer-predisposing syndrome [RCV002439021] | Chr19:50416437 [GRCh38] Chr19:50919694 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3168G>T (p.Thr1056=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001450991]|Hereditary cancer-predisposing syndrome [RCV002322488] | Chr19:50417219 [GRCh38] Chr19:50920476 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3213C>T (p.Cys1071=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001453075] | Chr19:50417264 [GRCh38] Chr19:50920521 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2487G>A (p.Leu829=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001417287] | Chr19:50414913 [GRCh38] Chr19:50918170 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-8G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001401603] | Chr19:50413734 [GRCh38] Chr19:50916991 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1569G>A (p.Leu523=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001439658]|Hereditary cancer-predisposing syndrome [RCV002405031] | Chr19:50407057 [GRCh38] Chr19:50910314 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001495860] | Chr19:50406527 [GRCh38] Chr19:50909784 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.342G>C (p.Gly114=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001457444]|Hereditary cancer-predisposing syndrome [RCV002342020] | Chr19:50401803 [GRCh38] Chr19:50905060 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2199G>A (p.Gln733=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001457487] | Chr19:50413470 [GRCh38] Chr19:50916727 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2844C>T (p.His948=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001484473]|Hereditary cancer-predisposing syndrome [RCV002439160] | Chr19:50416419 [GRCh38] Chr19:50919676 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1713C>G (p.Pro571=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001473548] | Chr19:50407353 [GRCh38] Chr19:50910610 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2568C>T (p.Asp856=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001458300]|Hereditary cancer-predisposing syndrome [RCV002432280] | Chr19:50415441 [GRCh38] Chr19:50918698 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3063C>T (p.His1021=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001462799] | Chr19:50416719 [GRCh38] Chr19:50919976 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.66C>G (p.Leu22=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001464775] | Chr19:50398917 [GRCh38] Chr19:50902174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.174G>C (p.Leu58=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001429149] | Chr19:50399025 [GRCh38] Chr19:50902282 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1659C>T (p.Val553=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001460587] | Chr19:50407147 [GRCh38] Chr19:50910404 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.342G>A (p.Gly114=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001474110]|Hereditary cancer-predisposing syndrome [RCV002342067]|not provided [RCV001574952] | Chr19:50401803 [GRCh38] Chr19:50905060 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1404G>A (p.Lys468=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001476174]|Hereditary cancer-predisposing syndrome [RCV002396132] | Chr19:50406427 [GRCh38] Chr19:50909684 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1701G>A (p.Gly567=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001471604]|Hereditary cancer-predisposing syndrome [RCV002405107] | Chr19:50407341 [GRCh38] Chr19:50910598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2409T>C (p.Leu803=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001451811]|Hereditary cancer-predisposing syndrome [RCV002449215] | Chr19:50414835 [GRCh38] Chr19:50918092 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1281T>C (p.Leu427=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001452789] | Chr19:50406220 [GRCh38] Chr19:50909477 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1521C>T (p.Arg507=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001455812]|Hereditary cancer-predisposing syndrome [RCV002396064] | Chr19:50407009 [GRCh38] Chr19:50910266 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820+9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001415554] | Chr19:50415835 [GRCh38] Chr19:50919092 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-5dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001521641] | Chr19:50401769..50401770 [GRCh38] Chr19:50905026..50905027 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.738C>T (p.Ala246=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001427419]|Hereditary cancer-predisposing syndrome [RCV002384634] | Chr19:50402353 [GRCh38] Chr19:50905610 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.828G>A (p.Arg276=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001404381]|Hereditary cancer-predisposing syndrome [RCV002432115] | Chr19:50402523 [GRCh38] Chr19:50905780 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2709G>A (p.Leu903=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001480633] | Chr19:50415582 [GRCh38] Chr19:50918839 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3177G>A (p.Gln1059=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001463348] | Chr19:50417228 [GRCh38] Chr19:50920485 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001400344] | Chr19:50403487 [GRCh38] Chr19:50906744 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2106C>A (p.Gly702=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001485321] | Chr19:50409618 [GRCh38] Chr19:50912875 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2640G>A (p.Gln880=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001434730] | Chr19:50415513 [GRCh38] Chr19:50918770 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3057C>T (p.Leu1019=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001404767]|Hereditary cancer-predisposing syndrome [RCV003298665] | Chr19:50416713 [GRCh38] Chr19:50919970 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.966C>A (p.Arg322=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001459468]|Hereditary cancer-predisposing syndrome [RCV002384726]|not provided [RCV003478845] | Chr19:50402737 [GRCh38] Chr19:50905994 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+10C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001480749]|POLD1-related condition [RCV003965971] | Chr19:50402134 [GRCh38] Chr19:50905391 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2418G>A (p.Lys806=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001480791] | Chr19:50414844 [GRCh38] Chr19:50918101 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2679C>T (p.Asp893=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001404879]|Hereditary cancer-predisposing syndrome [RCV002432117] | Chr19:50415552 [GRCh38] Chr19:50918809 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.453A>G (p.Pro151=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001393920] | Chr19:50401914 [GRCh38] Chr19:50905171 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.679C>T (p.Leu227=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001441456]|Hereditary cancer-predisposing syndrome [RCV002368362] | Chr19:50402294 [GRCh38] Chr19:50905551 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.295T>C (p.Leu99=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001441475]|Hereditary cancer-predisposing syndrome [RCV002439038] | Chr19:50399463 [GRCh38] Chr19:50902720 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2664C>T (p.Thr888=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001481065] | Chr19:50415537 [GRCh38] Chr19:50918794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2793G>A (p.Lys931=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001430733] | Chr19:50415799 [GRCh38] Chr19:50919056 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2499C>T (p.Arg833=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001456594] | Chr19:50414925 [GRCh38] Chr19:50918182 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+4del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001416737] | Chr19:50406326 [GRCh38] Chr19:50909583 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2412C>T (p.Ile804=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001458028] | Chr19:50414838 [GRCh38] Chr19:50918095 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+20A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003106890] | Chr19:50408921 [GRCh38] Chr19:50912178 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-4A>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002257320] | Chr19:50401774 [GRCh38] Chr19:50905031 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1216C>G (p.Leu406Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094247]|Hereditary cancer-predisposing syndrome [RCV002258609] | Chr19:50403571 [GRCh38] Chr19:50906828 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.319C>A (p.Pro107Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002259249] | Chr19:50401780 [GRCh38] Chr19:50905037 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.19C>T (p.Pro7Ser) | single nucleotide variant | not specified [RCV002250303] | Chr19:50398870 [GRCh38] Chr19:50902127 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.614G>A (p.Gly205Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001868428]|not provided [RCV001754727] | Chr19:50402229 [GRCh38] Chr19:50905486 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002077197]|not provided [RCV001769433] | Chr19:50417040 [GRCh38] Chr19:50920297 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1999C>T (p.Arg667Trp) | single nucleotide variant | not provided [RCV001756955] | Chr19:50409228 [GRCh38] Chr19:50912485 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-12T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002077190]|not provided [RCV001774123] | Chr19:50417160 [GRCh38] Chr19:50920417 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.564G>A (p.Leu188=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094250]|Hereditary cancer-predisposing syndrome [RCV002255968] | Chr19:50402099 [GRCh38] Chr19:50905356 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1240_1241insCCTTG (p.Lys414fs) | insertion | Hereditary cancer-predisposing syndrome [RCV002257317] | Chr19:50403595..50403596 [GRCh38] Chr19:50906852..50906853 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1995T>C (p.Ser665=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094248]|Hereditary cancer-predisposing syndrome [RCV002257319] | Chr19:50409224 [GRCh38] Chr19:50912481 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.715C>A (p.Pro239Thr) | single nucleotide variant | not provided [RCV001769363] | Chr19:50402330 [GRCh38] Chr19:50905587 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.266C>G (p.Pro89Arg) | single nucleotide variant | not provided [RCV001769389] | Chr19:50399434 [GRCh38] Chr19:50902691 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.417C>T (p.Cys139=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002074013]|Hereditary cancer-predisposing syndrome [RCV002329736]|not provided [RCV001761320] | Chr19:50401878 [GRCh38] Chr19:50905135 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2718-9T>A | single nucleotide variant | not provided [RCV001774099] | Chr19:50415715 [GRCh38] Chr19:50918972 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.291A>C (p.Gln97His) | single nucleotide variant | not provided [RCV001763697] | Chr19:50399459 [GRCh38] Chr19:50902716 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3082T>A (p.Phe1028Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001882866]|not provided [RCV001767217] | Chr19:50417059 [GRCh38] Chr19:50920316 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.727C>A (p.Pro243Thr) | single nucleotide variant | not provided [RCV001765011] | Chr19:50402342 [GRCh38] Chr19:50905599 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1947_1949del (p.Ser650del) | deletion | not provided [RCV001773256] | Chr19:50409175..50409177 [GRCh38] Chr19:50912432..50912434 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2041C>T (p.Leu681Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526097]|not provided [RCV001772494] | Chr19:50409553 [GRCh38] Chr19:50912810 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2872C>T (p.Leu958=) | single nucleotide variant | not provided [RCV001772551] | Chr19:50416447 [GRCh38] Chr19:50919704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.988G>C (p.Glu330Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001868649]|not provided [RCV001765954] | Chr19:50403070 [GRCh38] Chr19:50906327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.787T>C (p.Cys263Arg) | single nucleotide variant | not provided [RCV001751906] | Chr19:50402482 [GRCh38] Chr19:50905739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-20_1138-13del | deletion | not provided [RCV001761459] | Chr19:50403472..50403479 [GRCh38] Chr19:50906729..50906736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1167C>A (p.Asp389Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640993]|Hereditary cancer-predisposing syndrome [RCV002329739]|not provided [RCV001769372] | Chr19:50403522 [GRCh38] Chr19:50906779 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.766G>C (p.Val256Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001868607]|not provided [RCV001769403] | Chr19:50402461 [GRCh38] Chr19:50905718 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3199G>A (p.Glu1067Lys) | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001733592] | Chr19:50417250 [GRCh38] Chr19:50920507 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_002691.4(POLD1):c.1836G>A (p.Met612Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002540256]|not provided [RCV001768855] | Chr19:50408845 [GRCh38] Chr19:50912102 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.80A>G (p.Asp27Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640987]|not provided [RCV001768931] | Chr19:50398931 [GRCh38] Chr19:50902188 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.437C>T (p.Pro146Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001868558]|not provided [RCV001761494] | Chr19:50401898 [GRCh38] Chr19:50905155 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1260C>A (p.Phe420Leu) | single nucleotide variant | not provided [RCV001765942] | Chr19:50406199 [GRCh38] Chr19:50909456 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1697A>G (p.Glu566Gly) | single nucleotide variant | not provided [RCV001771333] | Chr19:50407337 [GRCh38] Chr19:50910594 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3278A>G (p.Glu1093Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640988]|not provided [RCV001760735] | Chr19:50417901 [GRCh38] Chr19:50921158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-11C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002074008]|not provided [RCV001767230] | Chr19:50403482 [GRCh38] Chr19:50906739 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2717+12_2717+13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001761698]|not provided [RCV003238569] | Chr19:50415600..50415601 [GRCh38] Chr19:50918857..50918858 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002691.4(POLD1):c.-1-260_-1-259dup | duplication | not provided [RCV001762884] | Chr19:50398570..50398571 [GRCh38] Chr19:50901827..50901828 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.2891A>G (p.Lys964Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640989]|Hereditary cancer-predisposing syndrome [RCV002440855]|not provided [RCV001763561] | Chr19:50416466 [GRCh38] Chr19:50919723 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.752A>G (p.Glu251Gly) | single nucleotide variant | not provided [RCV001761007] | Chr19:50402367 [GRCh38] Chr19:50905624 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2632A>C (p.Ile878Leu) | single nucleotide variant | not provided [RCV001758109] | Chr19:50415505 [GRCh38] Chr19:50918762 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2960A>C (p.Asp987Ala) | single nucleotide variant | not specified [RCV001822389] | Chr19:50416616 [GRCh38] Chr19:50919873 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2748del (p.Ser917fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001907619] | Chr19:50415752 [GRCh38] Chr19:50919009 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.166G>A (p.Glu56Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001964246] | Chr19:50399017 [GRCh38] Chr19:50902274 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983109] | Chr19:50403236 [GRCh38] Chr19:50906493 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2959G>C (p.Asp987His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002044634] | Chr19:50416615 [GRCh38] Chr19:50919872 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.268del (p.Gln90fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002008484] | Chr19:50399432 [GRCh38] Chr19:50902689 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+20G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001929887] | Chr19:50409686 [GRCh38] Chr19:50912943 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2518G>C (p.Val840Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001914452] | Chr19:50414944 [GRCh38] Chr19:50918201 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3037A>G (p.Ile1013Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002043940]|Hereditary cancer-predisposing syndrome [RCV002441229] | Chr19:50416693 [GRCh38] Chr19:50919950 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1353G>C (p.Met451Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001896388] | Chr19:50406292 [GRCh38] Chr19:50909549 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1208_1242+40del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001950206] | Chr19:50403561..50403635 [GRCh38] Chr19:50906818..50906892 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.143A>G (p.His48Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001926835]|Hereditary cancer-predisposing syndrome [RCV003167278] | Chr19:50398994 [GRCh38] Chr19:50902251 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.682G>A (p.Glu228Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002025745] | Chr19:50402297 [GRCh38] Chr19:50905554 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3301C>G (p.Pro1101Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001864439]|Hereditary cancer-predisposing syndrome [RCV002458688] | Chr19:50417924 [GRCh38] Chr19:50921181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.397G>A (p.Glu133Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001966287] | Chr19:50401858 [GRCh38] Chr19:50905115 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.590-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891439] | Chr19:50402199 [GRCh38] Chr19:50905456 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3113A>G (p.Gln1038Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002041924] | Chr19:50417090 [GRCh38] Chr19:50920347 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.432C>G (p.Phe144Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002041949] | Chr19:50401893 [GRCh38] Chr19:50905150 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+18G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001970617] | Chr19:50416546 [GRCh38] Chr19:50919803 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2454del (p.Asp819fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002004069] | Chr19:50414878 [GRCh38] Chr19:50918135 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3119_3120+1del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001985776] | Chr19:50417093..50417095 [GRCh38] Chr19:50920350..50920352 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1352T>C (p.Met451Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001873070] | Chr19:50406291 [GRCh38] Chr19:50909548 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.498G>T (p.Arg166=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002024828]|Hereditary cancer-predisposing syndrome [RCV002337166] | Chr19:50402033 [GRCh38] Chr19:50905290 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1441T>C (p.Phe481Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002008755] | Chr19:50406464 [GRCh38] Chr19:50909721 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2552T>G (p.Leu851Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002025942] | Chr19:50414978 [GRCh38] Chr19:50918235 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.407C>T (p.Ser136Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002042043] | Chr19:50401868 [GRCh38] Chr19:50905125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50916673)_(50918257_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001987969] | Chr19:50916673..50918257 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2971dup (p.Cys991fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002045138] | Chr19:50416626..50416627 [GRCh38] Chr19:50919883..50919884 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3116A>G (p.Lys1039Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001874369] | Chr19:50417093 [GRCh38] Chr19:50920350 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1909T>C (p.Phe637Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002041509] | Chr19:50409138 [GRCh38] Chr19:50912395 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2376G>A (p.Leu792=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001889497]|Hereditary cancer-predisposing syndrome [RCV002458739] | Chr19:50413867 [GRCh38] Chr19:50917124 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1951G>C (p.Val651Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001928461] | Chr19:50409180 [GRCh38] Chr19:50912437 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1801C>G (p.Leu601Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001896080] | Chr19:50408810 [GRCh38] Chr19:50912067 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.350C>A (p.Pro117Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001928302] | Chr19:50401811 [GRCh38] Chr19:50905068 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.50413742GTG[1] | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV002024430] | Chr19:50413741..50413743 [GRCh38] Chr19:50916998..50917000 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.217T>C (p.Ser73Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002008809] | Chr19:50399385 [GRCh38] Chr19:50902642 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.694C>G (p.Arg232Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002006984] | Chr19:50402309 [GRCh38] Chr19:50905566 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2671G>C (p.Ala891Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001914075]|Hereditary cancer-predisposing syndrome [RCV002441042] | Chr19:50415544 [GRCh38] Chr19:50918801 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3245G>T (p.Arg1082Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002025163] | Chr19:50417868 [GRCh38] Chr19:50921125 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2525A>G (p.Asn842Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002008825] | Chr19:50414951 [GRCh38] Chr19:50918208 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-5C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002023704] | Chr19:50406978 [GRCh38] Chr19:50910235 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3235T>C (p.Phe1079Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001969655] | Chr19:50417858 [GRCh38] Chr19:50921115 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.533G>T (p.Gly178Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001971707] | Chr19:50402068 [GRCh38] Chr19:50905325 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2006+5G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002043856] | Chr19:50409240 [GRCh38] Chr19:50912497 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3273C>G (p.Asp1091Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001950174] | Chr19:50417896 [GRCh38] Chr19:50921153 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2477G>A (p.Cys826Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001874999] | Chr19:50414903 [GRCh38] Chr19:50918160 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2681A>G (p.Tyr894Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002022769] | Chr19:50415554 [GRCh38] Chr19:50918811 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2528T>C (p.Leu843Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002040117] | Chr19:50414954 [GRCh38] Chr19:50918211 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2937_2953dup (p.Arg985fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001894029] | Chr19:50416508..50416509 [GRCh38] Chr19:50919765..50919766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.420C>G (p.His140Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001909867] | Chr19:50401881 [GRCh38] Chr19:50905138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2992A>G (p.Lys998Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891244] | Chr19:50416648 [GRCh38] Chr19:50919905 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1729G>T (p.Gly577Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002003838] | Chr19:50407369 [GRCh38] Chr19:50910626 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002022380] | Chr19:50407307 [GRCh38] Chr19:50910564 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1024_1034del (p.Leu342fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002039276] | Chr19:50403106..50403116 [GRCh38] Chr19:50906363..50906373 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2576G>C (p.Gly859Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002040307] | Chr19:50415449 [GRCh38] Chr19:50918706 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.365T>C (p.Val122Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001893916] | Chr19:50401826 [GRCh38] Chr19:50905083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.190G>A (p.Gly64Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002041765] | Chr19:50399041 [GRCh38] Chr19:50902298 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+6G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983599] | Chr19:50402541 [GRCh38] Chr19:50905798 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3301C>A (p.Pro1101Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001945497]|Hereditary cancer-predisposing syndrome [RCV002458790] | Chr19:50417924 [GRCh38] Chr19:50921181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.689G>A (p.Gly230Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983481] | Chr19:50402304 [GRCh38] Chr19:50905561 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2548C>G (p.Arg850Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001927342] | Chr19:50414974 [GRCh38] Chr19:50918231 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2656G>A (p.Glu886Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002001991] | Chr19:50415529 [GRCh38] Chr19:50918786 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.425A>T (p.His142Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001893408] | Chr19:50401886 [GRCh38] Chr19:50905143 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1690A>G (p.Met564Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983090] | Chr19:50407330 [GRCh38] Chr19:50910587 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2962C>A (p.His988Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001910554] | Chr19:50416618 [GRCh38] Chr19:50919875 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3299G>T (p.Gly1100Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001908954]|Hereditary cancer-predisposing syndrome [RCV003167079] | Chr19:50417922 [GRCh38] Chr19:50921179 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.69G>T (p.Trp23Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002022310] | Chr19:50398920 [GRCh38] Chr19:50902177 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1872C>A (p.Pro624=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002003142] | Chr19:50408881 [GRCh38] Chr19:50912138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.620C>A (p.Ser207Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001910854] | Chr19:50402235 [GRCh38] Chr19:50905492 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.256G>C (p.Ala86Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001946187]|Hereditary cancer-predisposing syndrome [RCV003375471] | Chr19:50399424 [GRCh38] Chr19:50902681 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.972C>T (p.Gly324=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001947561] | Chr19:50403054 [GRCh38] Chr19:50906311 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.314T>C (p.Val105Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002021345] | Chr19:50399482 [GRCh38] Chr19:50902739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1724C>T (p.Ser575Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001926852] | Chr19:50407364 [GRCh38] Chr19:50910621 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1237C>T (p.Leu413Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001926395] | Chr19:50403592 [GRCh38] Chr19:50906849 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953_2954insT (p.Arg985fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV001894565] | Chr19:50416609..50416610 [GRCh38] Chr19:50919866..50919867 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50919643)_(50921204_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002005403] | Chr19:50919643..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.200A>G (p.Asp67Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002008182] | Chr19:50399051 [GRCh38] Chr19:50902308 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1778A>C (p.Tyr593Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001966022] | Chr19:50408787 [GRCh38] Chr19:50912044 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1451A>G (p.Glu484Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001863460] | Chr19:50406474 [GRCh38] Chr19:50909731 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001968115] | Chr19:50403046 [GRCh38] Chr19:50906303 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1031G>T (p.Trp344Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002040418]|Hereditary cancer-predisposing syndrome [RCV002386899]|not provided [RCV002269389] | Chr19:50403113 [GRCh38] Chr19:50906370 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1627C>A (p.Leu543Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001949197] | Chr19:50407115 [GRCh38] Chr19:50910372 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.697G>A (p.Val233Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983760] | Chr19:50402312 [GRCh38] Chr19:50905569 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50919728)_(50920113_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001969117] | Chr19:50919728..50920113 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+6T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001910313] | Chr19:50407180 [GRCh38] Chr19:50910437 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) | copy number gain | not specified [RCV002052689] | Chr19:49911081..53127438 [GRCh37] Chr19:19q13.33-13.41 |
likely pathogenic |
NM_002691.4(POLD1):c.2212A>G (p.Lys738Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002041555]|Hereditary cancer-predisposing syndrome [RCV003299033] | Chr19:50413483 [GRCh38] Chr19:50916740 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.280C>G (p.Leu94Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891999] | Chr19:50399448 [GRCh38] Chr19:50902705 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1404G>T (p.Lys468Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001910646] | Chr19:50406427 [GRCh38] Chr19:50909684 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2503del (p.Asp835fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001969700] | Chr19:50414927 [GRCh38] Chr19:50918184 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2554C>T (p.Leu852Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891995]|Hereditary cancer-predisposing syndrome [RCV002425167]|not specified [RCV002465908] | Chr19:50414980 [GRCh38] Chr19:50918237 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.329C>G (p.Pro110Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001895489] | Chr19:50401790 [GRCh38] Chr19:50905047 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.868G>T (p.Val290Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002043822] | Chr19:50402639 [GRCh38] Chr19:50905896 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.533G>C (p.Gly178Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001895171]|Hereditary cancer-predisposing syndrome [RCV002343960] | Chr19:50402068 [GRCh38] Chr19:50905325 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2962C>T (p.His988Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001984118] | Chr19:50416618 [GRCh38] Chr19:50919875 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1516C>A (p.Arg506Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002005687] | Chr19:50407004 [GRCh38] Chr19:50910261 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2189A>T (p.Lys730Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001986857] | Chr19:50413460 [GRCh38] Chr19:50916717 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-1G>T | single nucleotide variant | not provided [RCV001829315] | Chr19:50413741 [GRCh38] Chr19:50916998 [GRCh37] Chr19:19q13.33 |
not provided |
NM_002691.4(POLD1):c.2007-15C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001928402] | Chr19:50409504 [GRCh38] Chr19:50912761 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1711C>G (p.Pro571Ala) | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV001829262] | Chr19:50407351 [GRCh38] Chr19:50910608 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1142G>C (p.Trp381Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002005960] | Chr19:50403497 [GRCh38] Chr19:50906754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3244del (p.Arg1082fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001986021] | Chr19:50417867 [GRCh38] Chr19:50921124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1579A>G (p.Met527Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002006645] | Chr19:50407067 [GRCh38] Chr19:50910324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1377G>T (p.Met459Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002023401] | Chr19:50406316 [GRCh38] Chr19:50909573 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2152C>G (p.Gln718Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001965815] | Chr19:50409664 [GRCh38] Chr19:50912921 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1143G>T (p.Trp381Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002042061] | Chr19:50403498 [GRCh38] Chr19:50906755 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1544A>G (p.Asp515Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002006076] | Chr19:50407032 [GRCh38] Chr19:50910289 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+67G>A | single nucleotide variant | not provided [RCV001840857] | Chr19:50407241 [GRCh38] Chr19:50910498 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1055_1056del (p.Arg352fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001927394] | Chr19:50403136..50403137 [GRCh38] Chr19:50906393..50906394 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2068C>T (p.Gln690Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001964168] | Chr19:50409580 [GRCh38] Chr19:50912837 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1246C>G (p.Gln416Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983167] | Chr19:50406185 [GRCh38] Chr19:50909442 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3202G>A (p.Asp1068Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001909686] | Chr19:50417253 [GRCh38] Chr19:50920510 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.365T>G (p.Val122Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891105] | Chr19:50401826 [GRCh38] Chr19:50905083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.809C>G (p.Ala270Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001964812] | Chr19:50402504 [GRCh38] Chr19:50905761 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.904G>A (p.Gly302Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891235] | Chr19:50402675 [GRCh38] Chr19:50905932 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2398C>T (p.Pro800Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002002673] | Chr19:50414824 [GRCh38] Chr19:50918081 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3049A>G (p.Thr1017Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001966270]|Hereditary cancer-predisposing syndrome [RCV002442959] | Chr19:50416705 [GRCh38] Chr19:50919962 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2057T>C (p.Leu686Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001872236] | Chr19:50409569 [GRCh38] Chr19:50912826 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1167C>G (p.Asp389Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001969297] | Chr19:50403522 [GRCh38] Chr19:50906779 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+19T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002007203] | Chr19:50402392 [GRCh38] Chr19:50905649 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2254G>T (p.Val752Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001983516]|Hereditary cancer-predisposing syndrome [RCV002443008] | Chr19:50413745 [GRCh38] Chr19:50917002 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-19_3121-18delinsAG | indel | Colorectal cancer, susceptibility to, 10 [RCV001892451] | Chr19:50417153..50417154 [GRCh38] Chr19:50920410..50920411 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2968_2988dup (p.Arg990_Thr996dup) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001910398] | Chr19:50416619..50416620 [GRCh38] Chr19:50919876..50919877 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1982A>T (p.Glu661Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001891805] | Chr19:50409211 [GRCh38] Chr19:50912468 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.-1-12C>G | single nucleotide variant | not provided [RCV001843683] | Chr19:50398839 [GRCh38] Chr19:50902096 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2302G>T (p.Val768Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002038053] | Chr19:50413793 [GRCh38] Chr19:50917050 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.163G>A (p.Glu55Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001962645]|Hereditary cancer-predisposing syndrome [RCV002397966] | Chr19:50399014 [GRCh38] Chr19:50902271 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1690A>T (p.Met564Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001978052]|Hereditary cancer-predisposing syndrome [RCV002407228] | Chr19:50407330 [GRCh38] Chr19:50910587 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3070G>C (p.Ala1024Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001887673] | Chr19:50417047 [GRCh38] Chr19:50920304 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2821-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002001164] | Chr19:50416393 [GRCh38] Chr19:50919650 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2715G>C (p.Glu905Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001933729]|Hereditary cancer-predisposing syndrome [RCV002425266] | Chr19:50415588 [GRCh38] Chr19:50918845 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.74A>T (p.Asp25Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002036734] | Chr19:50398925 [GRCh38] Chr19:50902182 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+3G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002026960] | Chr19:50402127 [GRCh38] Chr19:50905384 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.610C>T (p.His204Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001916605]|Hereditary cancer-predisposing syndrome [RCV003167233] | Chr19:50402225 [GRCh38] Chr19:50905482 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2710G>A (p.Ala904Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001905212] | Chr19:50415583 [GRCh38] Chr19:50918840 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.92C>A (p.Pro31Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002038940] | Chr19:50398943 [GRCh38] Chr19:50902200 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1244T>A (p.Val415Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001944630] | Chr19:50406183 [GRCh38] Chr19:50909440 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.548C>G (p.Thr183Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002027109] | Chr19:50402083 [GRCh38] Chr19:50905340 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1538T>C (p.Leu513Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001953173] | Chr19:50407026 [GRCh38] Chr19:50910283 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2078T>C (p.Leu693Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002029649] | Chr19:50409590 [GRCh38] Chr19:50912847 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2498G>A (p.Arg833His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001975501]|Hereditary cancer-predisposing syndrome [RCV003170219] | Chr19:50414924 [GRCh38] Chr19:50918181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2451_2455dup (p.Asp819fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002001263] | Chr19:50414872..50414873 [GRCh38] Chr19:50918129..50918130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2821-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002184936] | Chr19:50416383 [GRCh38] Chr19:50919640 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2843A>G (p.His948Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001944800] | Chr19:50416418 [GRCh38] Chr19:50919675 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50902109)_(50910682_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001995626] | Chr19:50902109..50910682 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.31C>T (p.Pro11Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001990096] | Chr19:50398882 [GRCh38] Chr19:50902139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2851C>T (p.Pro951Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001974308]|Hereditary cancer-predisposing syndrome [RCV002441145] | Chr19:50416426 [GRCh38] Chr19:50919683 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.819C>A (p.Tyr273Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001902133] | Chr19:50402514 [GRCh38] Chr19:50905771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1326C>T (p.Gly442=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002014652]|Hereditary cancer-predisposing syndrome [RCV002386812] | Chr19:50406265 [GRCh38] Chr19:50909522 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.193_196del (p.Val65fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001907219] | Chr19:50399043..50399046 [GRCh38] Chr19:50902300..50902303 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2684C>T (p.Ala895Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002020329] | Chr19:50415557 [GRCh38] Chr19:50918814 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+16C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001962403] | Chr19:50417285 [GRCh38] Chr19:50920542 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.711C>T (p.Gly237=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001943167] | Chr19:50402326 [GRCh38] Chr19:50905583 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2820G>C (p.Glu940Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001944321] | Chr19:50415826 [GRCh38] Chr19:50919083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2911G>C (p.Glu971Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002013453]|Hereditary cancer-predisposing syndrome [RCV002441202] | Chr19:50416486 [GRCh38] Chr19:50919743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2819_2820+1del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001980579] | Chr19:50415823..50415825 [GRCh38] Chr19:50919080..50919082 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.487G>A (p.Asp163Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001887818] | Chr19:50402022 [GRCh38] Chr19:50905279 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3030C>G (p.Asn1010Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001917138] | Chr19:50416686 [GRCh38] Chr19:50919943 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2996T>C (p.Val999Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002000560] | Chr19:50416652 [GRCh38] Chr19:50919909 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-14G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001997813] | Chr19:50417828 [GRCh38] Chr19:50921085 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3236del (p.Phe1079fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002038696] | Chr19:50417858 [GRCh38] Chr19:50921115 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1973A>G (p.Gln658Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001938070] | Chr19:50409202 [GRCh38] Chr19:50912459 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-19A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001999980] | Chr19:50413407 [GRCh38] Chr19:50916664 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1828A>G (p.Ile610Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001993094]|Hereditary cancer-predisposing syndrome [RCV003375489] | Chr19:50408837 [GRCh38] Chr19:50912094 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.556G>C (p.Ala186Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002037386]|Hereditary cancer-predisposing syndrome [RCV002343882] | Chr19:50402091 [GRCh38] Chr19:50905348 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2435T>C (p.Leu812Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001886988] | Chr19:50414861 [GRCh38] Chr19:50918118 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1073G>T (p.Arg358Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001974809] | Chr19:50403155 [GRCh38] Chr19:50906412 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.302T>C (p.Ile101Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001976167]|Hereditary cancer-predisposing syndrome [RCV002441137] | Chr19:50399470 [GRCh38] Chr19:50902727 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2080A>C (p.Lys694Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001921536] | Chr19:50409592 [GRCh38] Chr19:50912849 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2297C>T (p.Ser766Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001991925] | Chr19:50413788 [GRCh38] Chr19:50917045 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.133G>A (p.Glu45Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001934640]|Hereditary cancer-predisposing syndrome [RCV003299062] | Chr19:50398984 [GRCh38] Chr19:50902241 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001887562] | Chr19:50409518 [GRCh38] Chr19:50912775 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1914del (p.Arg639fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001963591] | Chr19:50409143 [GRCh38] Chr19:50912400 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+20A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002017240] | Chr19:50408921 [GRCh38] Chr19:50912178 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1288A>G (p.Asn430Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001917579]|Hereditary cancer-predisposing syndrome [RCV002386671] | Chr19:50406227 [GRCh38] Chr19:50909484 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3296T>C (p.Phe1099Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001993411] | Chr19:50417919 [GRCh38] Chr19:50921176 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001993463] | Chr19:50417166 [GRCh38] Chr19:50920423 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3106_3120+11dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001938644] | Chr19:50417082..50417083 [GRCh38] Chr19:50920339..50920340 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.316G>T (p.Gly106Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001900302] | Chr19:50399484 [GRCh38] Chr19:50902741 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.474del (p.Glu159fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002030649]|not provided [RCV003426274] | Chr19:50402007 [GRCh38] Chr19:50905264 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1455G>T (p.Gln485His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001921129] | Chr19:50406478 [GRCh38] Chr19:50909735 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.537dup (p.Arg180fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001994930] | Chr19:50402066..50402067 [GRCh38] Chr19:50905323..50905324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.581C>T (p.Ser194Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001990953] | Chr19:50402116 [GRCh38] Chr19:50905373 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1928G>C (p.Gly643Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001992064] | Chr19:50409157 [GRCh38] Chr19:50912414 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1084C>T (p.Pro362Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001954095] | Chr19:50403166 [GRCh38] Chr19:50906423 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.550G>A (p.Gly184Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001993437] | Chr19:50402085 [GRCh38] Chr19:50905342 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2473G>A (p.Asp825Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001930913] | Chr19:50414899 [GRCh38] Chr19:50918156 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.160GAG[5] (p.Glu57dup) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001995566] | Chr19:50399008..50399009 [GRCh38] Chr19:50902265..50902266 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001973921] | Chr19:50403598 [GRCh38] Chr19:50906855 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2014G>A (p.Ala672Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002030869] | Chr19:50409526 [GRCh38] Chr19:50912783 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50887648)_(51364623_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001916525] | Chr19:50887648..51364623 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1695C>G (p.His565Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001917886] | Chr19:50407335 [GRCh38] Chr19:50910592 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.401G>A (p.Gly134Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001919356] | Chr19:50401862 [GRCh38] Chr19:50905119 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.863C>A (p.Ala288Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001922421]|Hereditary cancer-predisposing syndrome [RCV002370473] | Chr19:50402634 [GRCh38] Chr19:50905891 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50905025)_(50906486_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001995625] | Chr19:50905025..50906486 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2765T>G (p.Val922Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001897928]|Hereditary cancer-predisposing syndrome [RCV002440977] | Chr19:50415771 [GRCh38] Chr19:50919028 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1484C>T (p.Thr495Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001977426]|Hereditary cancer-predisposing syndrome [RCV003375506] | Chr19:50406507 [GRCh38] Chr19:50909764 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.607G>C (p.Gly203Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001876426] | Chr19:50402222 [GRCh38] Chr19:50905479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2083G>T (p.Val695Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001934098] | Chr19:50409595 [GRCh38] Chr19:50912852 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.11A>C (p.Lys4Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001974218] | Chr19:50398862 [GRCh38] Chr19:50902119 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.682G>T (p.Glu228Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001993918] | Chr19:50402297 [GRCh38] Chr19:50905554 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.765G>T (p.Met255Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002029963]|Hereditary cancer-predisposing syndrome [RCV002388692] | Chr19:50402460 [GRCh38] Chr19:50905717 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3110A>G (p.Tyr1037Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001919651]|Hereditary cancer-predisposing syndrome [RCV003167247] | Chr19:50417087 [GRCh38] Chr19:50920344 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1044G>C (p.Glu348Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001992562]|Hereditary cancer-predisposing syndrome [RCV002388913] | Chr19:50403126 [GRCh38] Chr19:50906383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1759A>C (p.Ile587Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002027284] | Chr19:50407399 [GRCh38] Chr19:50910656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001918135] | Chr19:50417833 [GRCh38] Chr19:50921090 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.671G>T (p.Arg224Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001971852]|Hereditary cancer-predisposing syndrome [RCV003167334] | Chr19:50402286 [GRCh38] Chr19:50905543 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.765G>A (p.Met255Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001902195] | Chr19:50402460 [GRCh38] Chr19:50905717 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.638C>T (p.Thr213Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001915730] | Chr19:50402253 [GRCh38] Chr19:50905510 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.342del (p.Pro116fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001973317] | Chr19:50401798 [GRCh38] Chr19:50905055 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1494+6T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002048506] | Chr19:50406523 [GRCh38] Chr19:50909780 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.876G>T (p.Trp292Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001972021]|Hereditary cancer-predisposing syndrome [RCV002370552] | Chr19:50402647 [GRCh38] Chr19:50905904 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.326A>G (p.Gln109Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002028727] | Chr19:50401787 [GRCh38] Chr19:50905044 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.537del (p.Arg180fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001934212] | Chr19:50402067 [GRCh38] Chr19:50905324 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219C>T (p.Ser1073=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001954915] | Chr19:50417842 [GRCh38] Chr19:50921099 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2389-13G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001917228] | Chr19:50414802 [GRCh38] Chr19:50918059 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.256G>T (p.Ala86Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001989151] | Chr19:50399424 [GRCh38] Chr19:50902681 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2596G>A (p.Asp866Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001977680] | Chr19:50415469 [GRCh38] Chr19:50918726 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2173C>G (p.Arg725Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001937331] | Chr19:50413444 [GRCh38] Chr19:50916701 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.533G>A (p.Gly178Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002046258]|Hereditary cancer-predisposing syndrome [RCV002346321] | Chr19:50402068 [GRCh38] Chr19:50905325 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2666G>T (p.Arg889Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002033194] | Chr19:50415539 [GRCh38] Chr19:50918796 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1850_1851del (p.Cys617fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001991817] | Chr19:50408856..50408857 [GRCh38] Chr19:50912113..50912114 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2252T>A (p.Val751Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002051277] | Chr19:50413743 [GRCh38] Chr19:50917000 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1111T>C (p.Tyr371His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002012472] | Chr19:50403193 [GRCh38] Chr19:50906450 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1856C>A (p.Thr619Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002050202] | Chr19:50408865 [GRCh38] Chr19:50912122 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2913G>T (p.Glu971Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002050229] | Chr19:50416488 [GRCh38] Chr19:50919745 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-1G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002029061] | Chr19:50416609 [GRCh38] Chr19:50919866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.460C>T (p.Pro154Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001956824]|Hereditary cancer-predisposing syndrome [RCV003303516] | Chr19:50401921 [GRCh38] Chr19:50905178 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.898C>T (p.Pro300Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002027875]|Hereditary cancer-predisposing syndrome [RCV002443070] | Chr19:50402669 [GRCh38] Chr19:50905926 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.941G>A (p.Ser314Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002048961] | Chr19:50402712 [GRCh38] Chr19:50905969 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.188A>C (p.Glu63Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002050370] | Chr19:50399039 [GRCh38] Chr19:50902296 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.800A>G (p.Glu267Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001898947] | Chr19:50402495 [GRCh38] Chr19:50905752 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.347C>T (p.Pro116Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001973802] | Chr19:50401808 [GRCh38] Chr19:50905065 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1891G>T (p.Gly631Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001994297] | Chr19:50408900 [GRCh38] Chr19:50912157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2887G>A (p.Ala963Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002014083] | Chr19:50416462 [GRCh38] Chr19:50919719 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2998G>A (p.Gly1000Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002017023] | Chr19:50416654 [GRCh38] Chr19:50919911 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3166A>G (p.Thr1056Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002036041] | Chr19:50417217 [GRCh38] Chr19:50920474 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.343C>A (p.Pro115Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001982271] | Chr19:50401804 [GRCh38] Chr19:50905061 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1033G>A (p.Gly345Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001901610] | Chr19:50403115 [GRCh38] Chr19:50906372 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.681G>A (p.Leu227=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001917703]|Hereditary cancer-predisposing syndrome [RCV002361200] | Chr19:50402296 [GRCh38] Chr19:50905553 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.248C>G (p.Thr83Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001995567] | Chr19:50399416 [GRCh38] Chr19:50902673 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.684A>T (p.Glu228Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001981123] | Chr19:50402299 [GRCh38] Chr19:50905556 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2825C>G (p.Pro942Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002031726] | Chr19:50416400 [GRCh38] Chr19:50919657 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.609del (p.His204fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001979443] | Chr19:50402222 [GRCh38] Chr19:50905479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.634A>G (p.Ile212Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001925677] | Chr19:50402249 [GRCh38] Chr19:50905506 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+1del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002030783] | Chr19:50408899 [GRCh38] Chr19:50912156 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.929T>C (p.Leu310Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001900530] | Chr19:50402700 [GRCh38] Chr19:50905957 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1376T>A (p.Met459Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001997656] | Chr19:50406315 [GRCh38] Chr19:50909572 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1113C>A (p.Tyr371Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002029577] | Chr19:50403195 [GRCh38] Chr19:50906452 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+6_3120+21dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001904669] | Chr19:50417093..50417094 [GRCh38] Chr19:50920350..50920351 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.820G>T (p.Ala274Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002049595] | Chr19:50402515 [GRCh38] Chr19:50905772 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1063C>T (p.Leu355Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002033780]|Hereditary cancer-predisposing syndrome [RCV002407267] | Chr19:50403145 [GRCh38] Chr19:50906402 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1A>C (p.Met1Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001961511] | Chr19:50398852 [GRCh38] Chr19:50902109 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.370G>A (p.Val124Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002047077] | Chr19:50401831 [GRCh38] Chr19:50905088 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001956893] | Chr19:50403490 [GRCh38] Chr19:50906747 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1160T>C (p.Ile387Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001979559] | Chr19:50403515 [GRCh38] Chr19:50906772 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+4G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001905921] | Chr19:50403223 [GRCh38] Chr19:50906480 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.721T>C (p.Phe241Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002018982] | Chr19:50402336 [GRCh38] Chr19:50905593 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-6C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001961023] | Chr19:50416604 [GRCh38] Chr19:50919861 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.740A>T (p.Asn247Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001898282] | Chr19:50402355 [GRCh38] Chr19:50905612 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2594_2595del (p.Gln865fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002049779] | Chr19:50415467..50415468 [GRCh38] Chr19:50918724..50918725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001938617] | Chr19:50403224 [GRCh38] Chr19:50906481 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001925839] | Chr19:50413737 [GRCh38] Chr19:50916994 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2115dup (p.Ala706fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001981945] | Chr19:50409626..50409627 [GRCh38] Chr19:50912883..50912884 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1423A>G (p.Asn475Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001876655] | Chr19:50406446 [GRCh38] Chr19:50909703 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2414G>T (p.Ser805Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001997234] | Chr19:50414840 [GRCh38] Chr19:50918097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1679T>C (p.Leu560Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001924729] | Chr19:50407167 [GRCh38] Chr19:50910424 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1324G>A (p.Gly442Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001901034] | Chr19:50406263 [GRCh38] Chr19:50909520 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.288C>A (p.Phe96Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001989011]|Hereditary cancer-predisposing syndrome [RCV003355745] | Chr19:50399456 [GRCh38] Chr19:50902713 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1535G>A (p.Cys512Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001901016] | Chr19:50407023 [GRCh38] Chr19:50910280 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2383G>T (p.Glu795Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002033232] | Chr19:50413874 [GRCh38] Chr19:50917131 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+5del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001997917] | Chr19:50408906 [GRCh38] Chr19:50912163 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1502del (p.Asn501fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001981493] | Chr19:50406989 [GRCh38] Chr19:50910246 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.703G>C (p.Gly235Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001961181] | Chr19:50402318 [GRCh38] Chr19:50905575 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1727A>G (p.Glu576Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001876886] | Chr19:50407367 [GRCh38] Chr19:50910624 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1541A>G (p.Lys514Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001999134] | Chr19:50407029 [GRCh38] Chr19:50910286 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3053T>C (p.Val1018Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002031467]|Hereditary cancer-predisposing syndrome [RCV002443078] | Chr19:50416709 [GRCh38] Chr19:50919966 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.728C>T (p.Pro243Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001904927] | Chr19:50402343 [GRCh38] Chr19:50905600 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.463+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001884183] | Chr19:50401927 [GRCh38] Chr19:50905184 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2236_2240dup (p.Ser748fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV001901345]|Hereditary cancer-predisposing syndrome [RCV002425214] | Chr19:50413504..50413505 [GRCh38] Chr19:50916761..50916762 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.70G>A (p.Asp24Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001938259] | Chr19:50398921 [GRCh38] Chr19:50902178 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1163T>C (p.Met388Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002013942] | Chr19:50403518 [GRCh38] Chr19:50906775 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3181T>C (p.Cys1061Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002031536] | Chr19:50417232 [GRCh38] Chr19:50920489 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1350C>T (p.Ser450=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001979873]|Hereditary cancer-predisposing syndrome [RCV002386802] | Chr19:50406289 [GRCh38] Chr19:50909546 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1159_1160del (p.Ile387fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001998070] | Chr19:50403513..50403514 [GRCh38] Chr19:50906770..50906771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.61G>C (p.Gly21Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002029208] | Chr19:50398912 [GRCh38] Chr19:50902169 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001958400] | Chr19:50408782 [GRCh38] Chr19:50912039 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1692G>C (p.Met564Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001992172] | Chr19:50407332 [GRCh38] Chr19:50910589 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2542C>G (p.Leu848Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002046556] | Chr19:50414968 [GRCh38] Chr19:50918225 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1341G>T (p.Lys447Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001996370] | Chr19:50406280 [GRCh38] Chr19:50909537 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2121G>T (p.Gln707His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001933813] | Chr19:50409633 [GRCh38] Chr19:50912890 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.342_343delinsTT (p.Pro115Ser) | indel | Colorectal cancer, susceptibility to, 10 [RCV001866930] | Chr19:50401803..50401804 [GRCh38] Chr19:50905060..50905061 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2940_2941delinsTT (p.Glu980_Ala981delinsAspSer) | indel | Colorectal cancer, susceptibility to, 10 [RCV001997665] | Chr19:50416515..50416516 [GRCh38] Chr19:50919772..50919773 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1382A>T (p.Gln461Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001997251] | Chr19:50406321 [GRCh38] Chr19:50909578 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001980644] | Chr19:50409672 [GRCh38] Chr19:50912929 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.617C>T (p.Pro206Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001925936] | Chr19:50402232 [GRCh38] Chr19:50905489 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.591C>T (p.Ser197=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001997208]|Hereditary cancer-predisposing syndrome [RCV002352642] | Chr19:50402206 [GRCh38] Chr19:50905463 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.14GGC[1] (p.Arg6del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV001980770] | Chr19:50398863..50398865 [GRCh38] Chr19:50902120..50902122 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2582T>C (p.Val861Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001924186] | Chr19:50415455 [GRCh38] Chr19:50918712 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1494+5C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001885780] | Chr19:50406522 [GRCh38] Chr19:50909779 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.538A>T (p.Arg180Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001907476]|Hereditary cancer-predisposing syndrome [RCV002343911] | Chr19:50402073 [GRCh38] Chr19:50905330 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.83C>G (p.Ala28Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002019798] | Chr19:50398934 [GRCh38] Chr19:50902191 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001997773] | Chr19:50415593 [GRCh38] Chr19:50918850 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.277C>A (p.Pro93Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001960777] | Chr19:50399445 [GRCh38] Chr19:50902702 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2285G>T (p.Arg762Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001999386] | Chr19:50413776 [GRCh38] Chr19:50917033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.691A>G (p.Ile231Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001959545] | Chr19:50402306 [GRCh38] Chr19:50905563 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2836C>G (p.Leu946Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002034966] | Chr19:50416411 [GRCh38] Chr19:50919668 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.386G>A (p.Gly129Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001940583] | Chr19:50401847 [GRCh38] Chr19:50905104 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2752C>G (p.Leu918Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001926035] | Chr19:50415758 [GRCh38] Chr19:50919015 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1952T>C (p.Val651Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001932169]|not provided [RCV003317539] | Chr19:50409181 [GRCh38] Chr19:50912438 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.611A>C (p.His204Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001989048]|Hereditary cancer-predisposing syndrome [RCV002352711] | Chr19:50402226 [GRCh38] Chr19:50905483 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2335del (p.Ala779fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001899964] | Chr19:50413826 [GRCh38] Chr19:50917083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1498G>A (p.Gly500Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001878305] | Chr19:50406986 [GRCh38] Chr19:50910243 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2500A>G (p.Arg834Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001900813] | Chr19:50414926 [GRCh38] Chr19:50918183 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3164G>A (p.Trp1055Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002016479] | Chr19:50417215 [GRCh38] Chr19:50920472 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3055C>T (p.Leu1019Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002027108] | Chr19:50416711 [GRCh38] Chr19:50919968 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3275A>G (p.Gln1092Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001991718] | Chr19:50417898 [GRCh38] Chr19:50921155 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.751G>C (p.Glu251Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002031589] | Chr19:50402366 [GRCh38] Chr19:50905623 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.41C>A (p.Pro14His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001932296] | Chr19:50398892 [GRCh38] Chr19:50902149 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1939G>T (p.Val647Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001902615]|Hereditary cancer-predisposing syndrome [RCV002406994] | Chr19:50409168 [GRCh38] Chr19:50912425 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1283G>C (p.Cys428Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001953941]|Hereditary cancer-predisposing syndrome [RCV002386823] | Chr19:50406222 [GRCh38] Chr19:50909479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.534_537del (p.Arg180fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001865146] | Chr19:50402067..50402070 [GRCh38] Chr19:50905324..50905327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.946G>C (p.Asp316His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001916072] | Chr19:50402717 [GRCh38] Chr19:50905974 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2210C>T (p.Ser737Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001902976]|Hereditary cancer-predisposing syndrome [RCV002425195] | Chr19:50413481 [GRCh38] Chr19:50916738 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.587A>T (p.Glu196Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001974955] | Chr19:50402122 [GRCh38] Chr19:50905379 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2952G>T (p.Leu984=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001923164] | Chr19:50416527 [GRCh38] Chr19:50919784 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2917A>T (p.Ile973Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002010930] | Chr19:50416492 [GRCh38] Chr19:50919749 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971G>C (p.Gly324Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002011932] | Chr19:50403053 [GRCh38] Chr19:50906310 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1961G>A (p.Gly654Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001934536] | Chr19:50409190 [GRCh38] Chr19:50912447 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2908_2954-32del | deletion | Colorectal cancer, susceptibility to, 10 [RCV001976978] | Chr19:50416480..50416575 [GRCh38] Chr19:50919737..50919832 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.529C>A (p.Arg177Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001955893] | Chr19:50402064 [GRCh38] Chr19:50905321 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.910T>C (p.Trp304Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001994967]|Hereditary cancer-predisposing syndrome [RCV003170203] | Chr19:50402681 [GRCh38] Chr19:50905938 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1616C>T (p.Thr539Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001903114]|Hereditary cancer-predisposing syndrome [RCV002397861] | Chr19:50407104 [GRCh38] Chr19:50910361 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.359G>T (p.Gly120Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002033478] | Chr19:50401820 [GRCh38] Chr19:50905077 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-2A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002017157] | Chr19:50417840 [GRCh38] Chr19:50921097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48618906)_(50921204_?)dup | duplication | Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] | Chr19:48618906..50921204 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2347T>A (p.Ser783Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001933599] | Chr19:50413838 [GRCh38] Chr19:50917095 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2920C>G (p.Leu974Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002027817]|Hereditary cancer-predisposing syndrome [RCV002441231] | Chr19:50416495 [GRCh38] Chr19:50919752 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1898C>T (p.Thr633Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001975327] | Chr19:50409127 [GRCh38] Chr19:50912384 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001956102] | Chr19:50406971 [GRCh38] Chr19:50910228 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1200C>G (p.Asn400Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001881783] | Chr19:50403555 [GRCh38] Chr19:50906812 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+3A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV001996485] | Chr19:50402376 [GRCh38] Chr19:50905633 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2656del (p.Glu886fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV001931095] | Chr19:50415528 [GRCh38] Chr19:50918785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2091C>T (p.Ala697=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002128052] | Chr19:50409603 [GRCh38] Chr19:50912860 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1038G>A (p.Glu346=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002092411] | Chr19:50403120 [GRCh38] Chr19:50906377 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-13T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002165066] | Chr19:50406970 [GRCh38] Chr19:50910227 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002112462] | Chr19:50409102 [GRCh38] Chr19:50912359 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002088524] | Chr19:50416592 [GRCh38] Chr19:50919849 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002207494] | Chr19:50406341 [GRCh38] Chr19:50909598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002166451] | Chr19:50415607 [GRCh38] Chr19:50918864 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.492G>A (p.Leu164=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002186729]|Hereditary cancer-predisposing syndrome [RCV002337200] | Chr19:50402027 [GRCh38] Chr19:50905284 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+10_1686+13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002145868] | Chr19:50407184..50407187 [GRCh38] Chr19:50910441..50910444 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+14C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002168967] | Chr19:50402755 [GRCh38] Chr19:50906012 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+13G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002108816] | Chr19:50406335 [GRCh38] Chr19:50909592 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2835G>T (p.Val945=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002207447] | Chr19:50416410 [GRCh38] Chr19:50919667 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002185220]|not specified [RCV003479397] | Chr19:50416591 [GRCh38] Chr19:50919848 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-15G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002086053] | Chr19:50406167 [GRCh38] Chr19:50909424 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3216C>T (p.Thr1072=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002145483] | Chr19:50417267 [GRCh38] Chr19:50920524 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+7G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002092432] | Chr19:50406524 [GRCh38] Chr19:50909781 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+17G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002127646] | Chr19:50417114 [GRCh38] Chr19:50920371 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1914C>T (p.Ile638=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002165516] | Chr19:50409143 [GRCh38] Chr19:50912400 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002104645] | Chr19:50417284 [GRCh38] Chr19:50920541 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002191059] | Chr19:50402553 [GRCh38] Chr19:50905810 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002168551] | Chr19:50399361 [GRCh38] Chr19:50902618 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1878T>C (p.Thr626=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002206441] | Chr19:50408887 [GRCh38] Chr19:50912144 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2337G>C (p.Ala779=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002188403]|Hereditary cancer-predisposing syndrome [RCV002454567] | Chr19:50413828 [GRCh38] Chr19:50917085 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+18G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002088195] | Chr19:50408919 [GRCh38] Chr19:50912176 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2388+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002206242] | Chr19:50413887 [GRCh38] Chr19:50917144 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+16C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002125211] | Chr19:50409682 [GRCh38] Chr19:50912939 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1026G>C (p.Leu342=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002205472] | Chr19:50403108 [GRCh38] Chr19:50906365 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.714G>T (p.Thr238=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002166061] | Chr19:50402329 [GRCh38] Chr19:50905586 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-15del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002189755] | Chr19:50409501 [GRCh38] Chr19:50912758 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.630G>A (p.Leu210=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002169147]|Hereditary cancer-predisposing syndrome [RCV002352932] | Chr19:50402245 [GRCh38] Chr19:50905502 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2947C>T (p.Leu983=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002164859]|Hereditary cancer-predisposing syndrome [RCV002441260] | Chr19:50416522 [GRCh38] Chr19:50919779 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1941G>A (p.Val647=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002107971]|Hereditary cancer-predisposing syndrome [RCV002409514] | Chr19:50409170 [GRCh38] Chr19:50912427 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002106740] | Chr19:50403484 [GRCh38] Chr19:50906741 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2613G>A (p.Leu871=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002166267] | Chr19:50415486 [GRCh38] Chr19:50918743 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002073552] | Chr19:50401991 [GRCh38] Chr19:50905248 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+10G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002208151] | Chr19:50415600 [GRCh38] Chr19:50918857 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002170470] | Chr19:50416377 [GRCh38] Chr19:50919634 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+20C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002185484] | Chr19:50402144 [GRCh38] Chr19:50905401 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1347C>T (p.Val449=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002191868] | Chr19:50406286 [GRCh38] Chr19:50909543 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.57T>C (p.Arg19=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002149304] | Chr19:50398908 [GRCh38] Chr19:50902165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2607G>C (p.Ser869=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002210708] | Chr19:50415480 [GRCh38] Chr19:50918737 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+18T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002169977] | Chr19:50415608 [GRCh38] Chr19:50918865 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-17CCCA[4] | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV002146807]|POLD1-related condition [RCV003958773]|not specified [RCV003321905] | Chr19:50406389..50406390 [GRCh38] Chr19:50909646..50909647 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+18_2717+19del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002128292] | Chr19:50415607..50415608 [GRCh38] Chr19:50918864..50918865 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+23_3120+25del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV002186212] | Chr19:50417116..50417118 [GRCh38] Chr19:50920373..50920375 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+17G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002106362] | Chr19:50403236 [GRCh38] Chr19:50906493 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+13G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002085201] | Chr19:50402754 [GRCh38] Chr19:50906011 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-5T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002126876]|Hereditary cancer-predisposing syndrome [RCV002427644] | Chr19:50415433 [GRCh38] Chr19:50918690 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.1243-16T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002184938] | Chr19:50406166 [GRCh38] Chr19:50909423 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3237C>T (p.Phe1079=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002145473] | Chr19:50417860 [GRCh38] Chr19:50921117 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-18A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002124579] | Chr19:50406965 [GRCh38] Chr19:50910222 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2040C>A (p.Pro680=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002187058]|Hereditary cancer-predisposing syndrome [RCV002423310]|POLD1-related condition [RCV003950907] | Chr19:50409552 [GRCh38] Chr19:50912809 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1764G>A (p.Glu588=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002108814]|Hereditary cancer-predisposing syndrome [RCV002409559] | Chr19:50407404 [GRCh38] Chr19:50910661 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2394C>T (p.Tyr798=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002108917]|Hereditary cancer-predisposing syndrome [RCV002454509] | Chr19:50414820 [GRCh38] Chr19:50918077 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1788C>T (p.Val596=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002166877] | Chr19:50408797 [GRCh38] Chr19:50912054 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002084839]|not specified [RCV002268598] | Chr19:50407311 [GRCh38] Chr19:50910568 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002209790]|not specified [RCV003321902] | Chr19:50415420 [GRCh38] Chr19:50918677 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+20G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002164814] | Chr19:50399073 [GRCh38] Chr19:50902330 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2028G>A (p.Lys676=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002167100] | Chr19:50409540 [GRCh38] Chr19:50912797 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1500G>A (p.Gly500=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002087008] | Chr19:50406988 [GRCh38] Chr19:50910245 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002072719] | Chr19:50402132 [GRCh38] Chr19:50905389 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+14del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002091116] | Chr19:50402134 [GRCh38] Chr19:50905391 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.316+8T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002189789] | Chr19:50399492 [GRCh38] Chr19:50902749 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002187557] | Chr19:50413728 [GRCh38] Chr19:50916985 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2484C>A (p.Gly828=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002147789] | Chr19:50414910 [GRCh38] Chr19:50918167 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-16C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002107806] | Chr19:50406391 [GRCh38] Chr19:50909648 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2370C>T (p.Ile790=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002208131] | Chr19:50413861 [GRCh38] Chr19:50917118 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-13T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002147781] | Chr19:50416597 [GRCh38] Chr19:50919854 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.888C>G (p.Val296=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002126397] | Chr19:50402659 [GRCh38] Chr19:50905916 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002146555] | Chr19:50402381 [GRCh38] Chr19:50905638 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+14A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002190401] | Chr19:50409249 [GRCh38] Chr19:50912506 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+26_2564+98del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002190298] | Chr19:50415001..50415073 [GRCh38] Chr19:50918258..50918330 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1068C>G (p.Thr356=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002073460] | Chr19:50403150 [GRCh38] Chr19:50906407 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+19G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002105321] | Chr19:50406341 [GRCh38] Chr19:50909598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002187953] | Chr19:50413727 [GRCh38] Chr19:50916984 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+18G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002112055] | Chr19:50407433 [GRCh38] Chr19:50910690 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-14del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002169868] | Chr19:50402190 [GRCh38] Chr19:50905447 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002071590] | Chr19:50409245 [GRCh38] Chr19:50912502 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.672C>T (p.Arg224=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002075476]|Hereditary cancer-predisposing syndrome [RCV003161441] | Chr19:50402287 [GRCh38] Chr19:50905544 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2748C>T (p.Pro916=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002111852]|Hereditary cancer-predisposing syndrome [RCV002434493] | Chr19:50415754 [GRCh38] Chr19:50919011 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+16C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002096116] | Chr19:50406533 [GRCh38] Chr19:50909790 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002174940] | Chr19:50406978 [GRCh38] Chr19:50910235 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+7A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002081125] | Chr19:50409673 [GRCh38] Chr19:50912930 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002131176] | Chr19:50402547 [GRCh38] Chr19:50905804 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-15_1687-14dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002214818] | Chr19:50407311..50407312 [GRCh38] Chr19:50910568..50910569 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.198A>G (p.Ala66=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002193461] | Chr19:50399049 [GRCh38] Chr19:50902306 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-19C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002194910] | Chr19:50417153 [GRCh38] Chr19:50920410 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+14A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002152473] | Chr19:50401938 [GRCh38] Chr19:50905195 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+9_2564+10dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002134398] | Chr19:50414996..50414997 [GRCh38] Chr19:50918253..50918254 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1650C>G (p.Gly550=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002191459]|Hereditary cancer-predisposing syndrome [RCV002391354] | Chr19:50407138 [GRCh38] Chr19:50910395 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+15C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002149991] | Chr19:50407189 [GRCh38] Chr19:50910446 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002113475] | Chr19:50409502 [GRCh38] Chr19:50912759 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212160] | Chr19:50416738 [GRCh38] Chr19:50919995 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+8G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002215451] | Chr19:50416731 [GRCh38] Chr19:50919988 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-12G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002174324] | Chr19:50406971 [GRCh38] Chr19:50910228 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.264C>T (p.Asp88=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002211739] | Chr19:50399432 [GRCh38] Chr19:50902689 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002095198] | Chr19:50415602 [GRCh38] Chr19:50918859 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1758C>T (p.Val586=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002078705] | Chr19:50407398 [GRCh38] Chr19:50910655 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2775G>A (p.Val925=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002078033] | Chr19:50415781 [GRCh38] Chr19:50919038 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.846G>T (p.Thr282=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212316] | Chr19:50402617 [GRCh38] Chr19:50905874 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1890G>A (p.Leu630=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002174382]|Hereditary cancer-predisposing syndrome [RCV002409602] | Chr19:50408899 [GRCh38] Chr19:50912156 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1896G>C (p.Leu632=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002172286] | Chr19:50409125 [GRCh38] Chr19:50912382 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+14C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002093317] | Chr19:50415604 [GRCh38] Chr19:50918861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-17T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002078360] | Chr19:50406966 [GRCh38] Chr19:50910223 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1963C>T (p.Leu655=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002150453]|Hereditary cancer-predisposing syndrome [RCV003307976] | Chr19:50409192 [GRCh38] Chr19:50912449 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-18C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002172759] | Chr19:50417824 [GRCh38] Chr19:50921081 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+14_2953+15del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002151512] | Chr19:50416542..50416543 [GRCh38] Chr19:50919799..50919800 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212073] | Chr19:50402760 [GRCh38] Chr19:50906017 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+16G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212147] | Chr19:50416544 [GRCh38] Chr19:50919801 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1245A>G (p.Val415=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212148] | Chr19:50406184 [GRCh38] Chr19:50909441 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-16A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002216014] | Chr19:50413410 [GRCh38] Chr19:50916667 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+14A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002172679] | Chr19:50407188 [GRCh38] Chr19:50910445 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.633C>T (p.Arg211=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002111850] | Chr19:50402248 [GRCh38] Chr19:50905505 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1254C>T (p.Phe418=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002193873]|Hereditary cancer-predisposing syndrome [RCV002416521] | Chr19:50406193 [GRCh38] Chr19:50909450 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002095316] | Chr19:50413533 [GRCh38] Chr19:50916790 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3051A>C (p.Thr1017=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002094062] | Chr19:50416707 [GRCh38] Chr19:50919964 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+13G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002081075] | Chr19:50415603 [GRCh38] Chr19:50918860 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+7C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002173069] | Chr19:50403226 [GRCh38] Chr19:50906483 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2061T>C (p.Asp687=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002205794] | Chr19:50409573 [GRCh38] Chr19:50912830 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1848G>A (p.Leu616=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002096566]|Hereditary cancer-predisposing syndrome [RCV002409510] | Chr19:50408857 [GRCh38] Chr19:50912114 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-6_1893-2del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002153828] | Chr19:50409113..50409117 [GRCh38] Chr19:50912370..50912374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1473C>T (p.His491=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002093445] | Chr19:50406496 [GRCh38] Chr19:50909753 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002115379] | Chr19:50417830 [GRCh38] Chr19:50921087 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-10_3121-8dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002090447] | Chr19:50417160..50417161 [GRCh38] Chr19:50920417..50920418 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2448C>A (p.Ser816=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002194799]|Hereditary cancer-predisposing syndrome [RCV002443123] | Chr19:50414874 [GRCh38] Chr19:50918131 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.330T>G (p.Pro110=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002214648] | Chr19:50401791 [GRCh38] Chr19:50905048 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.49C>A (p.Arg17=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002153631] | Chr19:50398900 [GRCh38] Chr19:50902157 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+18A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002115517] | Chr19:50399071 [GRCh38] Chr19:50902328 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2434C>T (p.Leu812=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212910] | Chr19:50414860 [GRCh38] Chr19:50918117 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212921] | Chr19:50415422 [GRCh38] Chr19:50918679 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002152826] | Chr19:50408769 [GRCh38] Chr19:50912026 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.258G>T (p.Ala86=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002152841] | Chr19:50399426 [GRCh38] Chr19:50902683 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-18T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002117413] | Chr19:50413408 [GRCh38] Chr19:50916665 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2214G>A (p.Lys738=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002113712]|Hereditary cancer-predisposing syndrome [RCV002427682] | Chr19:50413485 [GRCh38] Chr19:50916742 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.822C>G (p.Ala274=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002079110] | Chr19:50402517 [GRCh38] Chr19:50905774 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-14_3219-9dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002213165] | Chr19:50417827..50417828 [GRCh38] Chr19:50921084..50921085 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002095941] | Chr19:50417034 [GRCh38] Chr19:50920291 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+9G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002152754] | Chr19:50416537 [GRCh38] Chr19:50919794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002174682] | Chr19:50403042 [GRCh38] Chr19:50906299 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+17A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002167091] | Chr19:50402390 [GRCh38] Chr19:50905647 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2835G>A (p.Val945=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002152679] | Chr19:50416410 [GRCh38] Chr19:50919667 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+13C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002113941] | Chr19:50413534 [GRCh38] Chr19:50916791 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-17T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002079443] | Chr19:50403476 [GRCh38] Chr19:50906733 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+13C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002107702] | Chr19:50403232 [GRCh38] Chr19:50906489 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+15A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002209393] | Chr19:50413536 [GRCh38] Chr19:50916793 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-11G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002192847] | Chr19:50402443 [GRCh38] Chr19:50905700 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+20G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002092593] | Chr19:50415610 [GRCh38] Chr19:50918867 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2007-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002213919] | Chr19:50409510 [GRCh38] Chr19:50912767 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2229T>C (p.Asn743=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002112598]|Hereditary cancer-predisposing syndrome [RCV002427637] | Chr19:50413500 [GRCh38] Chr19:50916757 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2097C>G (p.Ser699=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002092731] | Chr19:50409609 [GRCh38] Chr19:50912866 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.282C>T (p.Leu94=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002213212]|Hereditary cancer-predisposing syndrome [RCV002434459] | Chr19:50399450 [GRCh38] Chr19:50902707 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002093935] | Chr19:50402601 [GRCh38] Chr19:50905858 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+7C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002077535] | Chr19:50402380 [GRCh38] Chr19:50905637 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-20T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002147892] | Chr19:50402592 [GRCh38] Chr19:50905849 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3099G>A (p.Glu1033=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002080138] | Chr19:50417076 [GRCh38] Chr19:50920333 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.615C>A (p.Gly205=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002174240] | Chr19:50402230 [GRCh38] Chr19:50905487 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+16C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002085811] | Chr19:50409251 [GRCh38] Chr19:50912508 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-12C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002174250] | Chr19:50406395 [GRCh38] Chr19:50909652 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.963C>T (p.Gly321=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002212792]|Hereditary cancer-predisposing syndrome [RCV002372870] | Chr19:50402734 [GRCh38] Chr19:50905991 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-14G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002080237] | Chr19:50406969 [GRCh38] Chr19:50910226 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+19T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002164965] | Chr19:50416742 [GRCh38] Chr19:50919999 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002188786] | Chr19:50415008 [GRCh38] Chr19:50918265 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+8G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002208517] | Chr19:50402543 [GRCh38] Chr19:50905800 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-12G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002111571] | Chr19:50417033 [GRCh38] Chr19:50920290 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2836C>T (p.Leu946=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002194979]|Hereditary cancer-predisposing syndrome [RCV002441280] | Chr19:50416411 [GRCh38] Chr19:50919668 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+16G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002134434] | Chr19:50403613 [GRCh38] Chr19:50906870 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1954C>A (p.Arg652=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002172558]|Hereditary cancer-predisposing syndrome [RCV002423306] | Chr19:50409183 [GRCh38] Chr19:50912440 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+7A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002172568] | Chr19:50407181 [GRCh38] Chr19:50910438 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-9G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002149714] | Chr19:50403044 [GRCh38] Chr19:50906301 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002187714] | Chr19:50409246 [GRCh38] Chr19:50912503 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002075446] | Chr19:50403237 [GRCh38] Chr19:50906494 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1983G>A (p.Glu661=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002193277] | Chr19:50409212 [GRCh38] Chr19:50912469 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-12A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002113036] | Chr19:50416384 [GRCh38] Chr19:50919641 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002134662] | Chr19:50415001 [GRCh38] Chr19:50918258 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002075547] | Chr19:50417285 [GRCh38] Chr19:50920542 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-12_971-10del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV002130060] | Chr19:50403037..50403039 [GRCh38] Chr19:50906294..50906296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.36G>C (p.Gly12=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002152017] | Chr19:50398887 [GRCh38] Chr19:50902144 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002197055] | Chr19:50402599 [GRCh38] Chr19:50905856 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2868C>T (p.Tyr956=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002079261] | Chr19:50416443 [GRCh38] Chr19:50919700 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+11_3218+18del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002192440] | Chr19:50417279..50417286 [GRCh38] Chr19:50920536..50920543 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-13C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002114297] | Chr19:50417032 [GRCh38] Chr19:50920289 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002094438] | Chr19:50401943 [GRCh38] Chr19:50905200 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-12G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002094441] | Chr19:50417033 [GRCh38] Chr19:50920290 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2730G>A (p.Arg910=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002114962] | Chr19:50415736 [GRCh38] Chr19:50918993 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002072403] | Chr19:50406389 [GRCh38] Chr19:50909646 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1410C>T (p.Arg470=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002114359]|Hereditary cancer-predisposing syndrome [RCV002391300] | Chr19:50406433 [GRCh38] Chr19:50909690 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002094494] | Chr19:50417832 [GRCh38] Chr19:50921089 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002115058] | Chr19:50413540 [GRCh38] Chr19:50916797 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-17C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002188066] | Chr19:50406390 [GRCh38] Chr19:50909647 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-14_3219-10dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002089303] | Chr19:50417827..50417828 [GRCh38] Chr19:50921084..50921085 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+20A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002109146] | Chr19:50402555 [GRCh38] Chr19:50905812 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2997G>A (p.Val999=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002178564] | Chr19:50416653 [GRCh38] Chr19:50919910 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-91T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002243600] | Chr19:50408694 [GRCh38] Chr19:50911951 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1629C>G (p.Leu543=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002175291] | Chr19:50407117 [GRCh38] Chr19:50910374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-14T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002216576] | Chr19:50413412 [GRCh38] Chr19:50916669 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002201622] | Chr19:50401766 [GRCh38] Chr19:50905023 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002098104] | Chr19:50417289 [GRCh38] Chr19:50920546 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3024C>T (p.Arg1008=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002123363] | Chr19:50416680 [GRCh38] Chr19:50919937 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.621C>T (p.Ser207=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002154286]|Hereditary cancer-predisposing syndrome [RCV002363685] | Chr19:50402236 [GRCh38] Chr19:50905493 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+10G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002177696] | Chr19:50415000 [GRCh38] Chr19:50918257 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002118225] | Chr19:50402544 [GRCh38] Chr19:50905801 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2320C>T (p.Leu774=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002102550] | Chr19:50413811 [GRCh38] Chr19:50917068 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.278C>T (p.Pro93Leu) | single nucleotide variant | not specified [RCV002248108] | Chr19:50399446 [GRCh38] Chr19:50902703 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2946G>C (p.Val982=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002102605] | Chr19:50416521 [GRCh38] Chr19:50919778 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-20G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002158726] | Chr19:50417025 [GRCh38] Chr19:50920282 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+13C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002180384] | Chr19:50403610 [GRCh38] Chr19:50906867 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.636C>A (p.Ile212=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002202926] | Chr19:50402251 [GRCh38] Chr19:50905508 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002160978] | Chr19:50417114 [GRCh38] Chr19:50920371 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1362C>G (p.Arg454=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002157555] | Chr19:50406301 [GRCh38] Chr19:50909558 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2976G>A (p.Lys992=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002197737] | Chr19:50416632 [GRCh38] Chr19:50919889 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002220338] | Chr19:50402597 [GRCh38] Chr19:50905854 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002201525] | Chr19:50402435 [GRCh38] Chr19:50905692 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1090C>T (p.Leu364=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002159815]|Hereditary cancer-predisposing syndrome [RCV002454345] | Chr19:50403172 [GRCh38] Chr19:50906429 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.927C>G (p.Pro309=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002184454]|Hereditary cancer-predisposing syndrome [RCV002373036] | Chr19:50402698 [GRCh38] Chr19:50905955 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1437C>T (p.Phe479=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002177247] | Chr19:50406460 [GRCh38] Chr19:50909717 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+20_1137+21dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002142979] | Chr19:50403236..50403237 [GRCh38] Chr19:50906493..50906494 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1179C>T (p.Ile393=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002160136] | Chr19:50403534 [GRCh38] Chr19:50906791 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-16C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002200218] | Chr19:50406391 [GRCh38] Chr19:50909648 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-17G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002137873] | Chr19:50413409 [GRCh38] Chr19:50916666 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1017G>C (p.Ser339=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002200324] | Chr19:50403099 [GRCh38] Chr19:50906356 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002082294] | Chr19:50413722 [GRCh38] Chr19:50916979 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.678C>T (p.Leu226=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002100804] | Chr19:50402293 [GRCh38] Chr19:50905550 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002143698] | Chr19:50416596 [GRCh38] Chr19:50919853 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2532C>T (p.Val844=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002082382] | Chr19:50414958 [GRCh38] Chr19:50918215 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002138364] | Chr19:50406537 [GRCh38] Chr19:50909794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+8G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002219579] | Chr19:50416731 [GRCh38] Chr19:50919988 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1923C>T (p.Pro641=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002101127] | Chr19:50409152 [GRCh38] Chr19:50912409 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002204888] | Chr19:50413535 [GRCh38] Chr19:50916792 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1860G>T (p.Thr620=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002155433] | Chr19:50408869 [GRCh38] Chr19:50912126 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002144139] | Chr19:50416546 [GRCh38] Chr19:50919803 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002176936] | Chr19:50399495 [GRCh38] Chr19:50902752 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-18T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002099634] | Chr19:50413408 [GRCh38] Chr19:50916665 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3108G>A (p.Leu1036=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002119218] | Chr19:50417085 [GRCh38] Chr19:50920342 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002176970] | Chr19:50402387 [GRCh38] Chr19:50905644 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-15C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002137104] | Chr19:50413727 [GRCh38] Chr19:50916984 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-18A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002081206] | Chr19:50403475 [GRCh38] Chr19:50906732 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-9dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002099761] | Chr19:50417161..50417162 [GRCh38] Chr19:50920418..50920419 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1374C>T (p.Asp458=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002140462] | Chr19:50406313 [GRCh38] Chr19:50909570 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3234C>T (p.Ile1078=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002162956]|Hereditary cancer-predisposing syndrome [RCV002443196] | Chr19:50417857 [GRCh38] Chr19:50921114 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002083312] | Chr19:50409253 [GRCh38] Chr19:50912510 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-11C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002199861] | Chr19:50402601 [GRCh38] Chr19:50905858 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+14T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002216605] | Chr19:50408915 [GRCh38] Chr19:50912172 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+13G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002083485] | Chr19:50399497 [GRCh38] Chr19:50902754 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-13C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002098058] | Chr19:50415425 [GRCh38] Chr19:50918682 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.375C>G (p.Leu125=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002121454] | Chr19:50401836 [GRCh38] Chr19:50905093 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2373G>T (p.Arg791=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002182579]|Hereditary cancer-predisposing syndrome [RCV003161372] | Chr19:50413864 [GRCh38] Chr19:50917121 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002083827] | Chr19:50416595 [GRCh38] Chr19:50919852 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002142933] | Chr19:50402131 [GRCh38] Chr19:50905388 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.864G>T (p.Ala288=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002083938] | Chr19:50402635 [GRCh38] Chr19:50905892 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1155C>T (p.Ile385=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002136301]|Hereditary cancer-predisposing syndrome [RCV003308019] | Chr19:50403510 [GRCh38] Chr19:50906767 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+19T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002082217] | Chr19:50407193 [GRCh38] Chr19:50910450 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1779C>T (p.Tyr593=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002203862] | Chr19:50408788 [GRCh38] Chr19:50912045 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002160185] | Chr19:50402192 [GRCh38] Chr19:50905449 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+17del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002179986] | Chr19:50403236 [GRCh38] Chr19:50906493 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3246C>G (p.Arg1082=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002178473] | Chr19:50417869 [GRCh38] Chr19:50921126 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+20T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002140066] | Chr19:50415010 [GRCh38] Chr19:50918267 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+15T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002199196] | Chr19:50399068 [GRCh38] Chr19:50902325 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+11G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002138659] | Chr19:50403608 [GRCh38] Chr19:50906865 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+9C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002178623] | Chr19:50407183 [GRCh38] Chr19:50910440 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2670G>T (p.Ala890=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002099516] | Chr19:50415543 [GRCh38] Chr19:50918800 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2614C>T (p.Leu872=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002201274] | Chr19:50415487 [GRCh38] Chr19:50918744 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+12A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002199337] | Chr19:50408913 [GRCh38] Chr19:50912170 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002099586] | Chr19:50399353 [GRCh38] Chr19:50902610 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.537G>A (p.Gly179=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002153978]|Hereditary cancer-predisposing syndrome [RCV002346519] | Chr19:50402072 [GRCh38] Chr19:50905329 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2769C>A (p.Pro923=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002179070] | Chr19:50415775 [GRCh38] Chr19:50919032 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.544C>T (p.Leu182=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002119592]|Hereditary cancer-predisposing syndrome [RCV002346429] | Chr19:50402079 [GRCh38] Chr19:50905336 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+12_3120+29del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002157880] | Chr19:50417104..50417121 [GRCh38] Chr19:50920361..50920378 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1989G>C (p.Leu663=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002101941]|Hereditary cancer-predisposing syndrome [RCV002416466] | Chr19:50409218 [GRCh38] Chr19:50912475 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.203-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002199980] | Chr19:50399362 [GRCh38] Chr19:50902619 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+20T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002139645] | Chr19:50402393 [GRCh38] Chr19:50905650 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.717C>G (p.Pro239=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002203398] | Chr19:50402332 [GRCh38] Chr19:50905589 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1305A>G (p.Ser435=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002183419] | Chr19:50406244 [GRCh38] Chr19:50909501 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.330T>C (p.Pro110=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002175857]|Hereditary cancer-predisposing syndrome [RCV002325691] | Chr19:50401791 [GRCh38] Chr19:50905048 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.225A>T (p.Ile75=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002081901] | Chr19:50399393 [GRCh38] Chr19:50902650 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002135858] | Chr19:50407308 [GRCh38] Chr19:50910565 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-9del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002177869] | Chr19:50417829 [GRCh38] Chr19:50921086 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.589+11C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002156620] | Chr19:50402135 [GRCh38] Chr19:50905392 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1062G>T (p.Ala354=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002102473]|Hereditary cancer-predisposing syndrome [RCV002409483] | Chr19:50403144 [GRCh38] Chr19:50906401 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-14del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002141568] | Chr19:50409108 [GRCh38] Chr19:50912365 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-13T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002141282] | Chr19:50401765 [GRCh38] Chr19:50905022 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.126G>A (p.Glu42=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002156704]|Hereditary cancer-predisposing syndrome [RCV002372832] | Chr19:50398977 [GRCh38] Chr19:50902234 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1287C>T (p.Ser429=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002183998]|Hereditary cancer-predisposing syndrome [RCV002382448] | Chr19:50406226 [GRCh38] Chr19:50909483 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002082258] | Chr19:50409107 [GRCh38] Chr19:50912364 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+8T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002176223] | Chr19:50399061 [GRCh38] Chr19:50902318 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002219758] | Chr19:50401941 [GRCh38] Chr19:50905198 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.543G>A (p.Glu181=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002138394] | Chr19:50402078 [GRCh38] Chr19:50905335 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.318C>T (p.Gly106=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002219851] | Chr19:50401779 [GRCh38] Chr19:50905036 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002099365] | Chr19:50403609 [GRCh38] Chr19:50906866 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002204745] | Chr19:50399503 [GRCh38] Chr19:50902760 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.405C>T (p.Phe135=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002182251] | Chr19:50401866 [GRCh38] Chr19:50905123 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-17G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002219903] | Chr19:50417028 [GRCh38] Chr19:50920285 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.408T>C (p.Ser136=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002142382] | Chr19:50401869 [GRCh38] Chr19:50905126 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-9_841-8delinsAT | indel | Colorectal cancer, susceptibility to, 10 [RCV002176803] | Chr19:50402603..50402604 [GRCh38] Chr19:50905860..50905861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+17G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002182460] | Chr19:50417286 [GRCh38] Chr19:50920543 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+11G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002155765] | Chr19:50399064 [GRCh38] Chr19:50902321 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002142771] | Chr19:50414796 [GRCh38] Chr19:50918053 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002142785]|not specified [RCV003320265] | Chr19:50417829 [GRCh38] Chr19:50921086 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-20G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003110749] | Chr19:50417822 [GRCh38] Chr19:50921079 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2295G>T (p.Val765=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003116956] | Chr19:50413786 [GRCh38] Chr19:50917043 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003118185]|POLD1-related condition [RCV003946429] | Chr19:50402447 [GRCh38] Chr19:50905704 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-7T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003118190] | Chr19:50417165 [GRCh38] Chr19:50920422 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003112049] | Chr19:50415007 [GRCh38] Chr19:50918264 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3188G>A (p.Gly1063Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003112736]|not provided [RCV003443167] | Chr19:50417239 [GRCh38] Chr19:50920496 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1851T>C (p.Cys617=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003117122]|Hereditary cancer-predisposing syndrome [RCV003294632] | Chr19:50408860 [GRCh38] Chr19:50912117 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.374T>C (p.Leu125Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003119086]|not provided [RCV003119087] | Chr19:50401835 [GRCh38] Chr19:50905092 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003122268] | Chr19:50402437 [GRCh38] Chr19:50905694 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+6T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003121369] | Chr19:50414996 [GRCh38] Chr19:50918253 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50912388)_(50915072_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003122603] | Chr19:50912388..50915072 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50905040)_(50909085_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003122604] | Chr19:50905040..50909085 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50905025)_(50906864_?)del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003122605] | Chr19:50905025..50906864 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50887648)_(50917146_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003122606] | Chr19:50887648..50917146 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_50887648)_(50902751_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003122607] | Chr19:50887648..50902751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.795G>A (p.Trp265Ter) | single nucleotide variant | not provided [RCV003120410] | Chr19:50402490 [GRCh38] Chr19:50905747 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.536G>T (p.Gly179Val) | single nucleotide variant | not specified [RCV002248109] | Chr19:50402071 [GRCh38] Chr19:50905328 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.326A>T (p.Gln109Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002257321] | Chr19:50401787 [GRCh38] Chr19:50905044 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.328_329insG (p.Pro110fs) | insertion | Hereditary cancer-predisposing syndrome [RCV002257322] | Chr19:50401789..50401790 [GRCh38] Chr19:50905046..50905047 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1022G>T (p.Gly341Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002300664]|Hereditary cancer-predisposing syndrome [RCV002258608] | Chr19:50403104 [GRCh38] Chr19:50906361 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.323del (p.Ala108fs) | deletion | Hereditary cancer-predisposing syndrome [RCV002258610] | Chr19:50401784 [GRCh38] Chr19:50905041 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.332T>G (p.Val111Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258612] | Chr19:50401793 [GRCh38] Chr19:50905050 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2278A>G (p.Met760Val) | single nucleotide variant | not provided [RCV003234450] | Chr19:50413769 [GRCh38] Chr19:50917026 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-24G>A | single nucleotide variant | not specified [RCV002269091] | Chr19:50415414 [GRCh38] Chr19:50918671 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+39dup | duplication | not specified [RCV002269095] | Chr19:50416560..50416561 [GRCh38] Chr19:50919817..50919818 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-28C>T | single nucleotide variant | not specified [RCV002269098] | Chr19:50417814 [GRCh38] Chr19:50921071 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.372G>A (p.Val124=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002349173] | Chr19:50401833 [GRCh38] Chr19:50905090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+24T>C | single nucleotide variant | not specified [RCV002269077] | Chr19:50401948 [GRCh38] Chr19:50905205 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-34C>G | single nucleotide variant | not specified [RCV002269078] | Chr19:50402420 [GRCh38] Chr19:50905677 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+47G>C | single nucleotide variant | not specified [RCV002269080] | Chr19:50402788 [GRCh38] Chr19:50906045 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1791del (p.Ile598fs) | deletion | not specified [RCV002269086] | Chr19:50408797 [GRCh38] Chr19:50912054 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+38G>C | single nucleotide variant | not specified [RCV002269096] | Chr19:50416566 [GRCh38] Chr19:50919823 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-39T>G | single nucleotide variant | not specified [RCV002269132] | Chr19:50401739 [GRCh38] Chr19:50904996 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+42C>T | single nucleotide variant | not specified [RCV002269081] | Chr19:50403261 [GRCh38] Chr19:50906518 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-38C>T | single nucleotide variant | not specified [RCV002269085] | Chr19:50407289 [GRCh38] Chr19:50910546 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-42G>C | single nucleotide variant | not specified [RCV002269097] | Chr19:50417800 [GRCh38] Chr19:50921057 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-1-29C>A | single nucleotide variant | not specified [RCV002269128] | Chr19:50398822 [GRCh38] Chr19:50902079 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-25G>A | single nucleotide variant | not specified [RCV002269133] | Chr19:50401753 [GRCh38] Chr19:50905010 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2452C>T (p.Pro818Ser) | single nucleotide variant | not provided [RCV002286233] | Chr19:50414878 [GRCh38] Chr19:50918135 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2718-46C>T | single nucleotide variant | not specified [RCV002269093] | Chr19:50415678 [GRCh38] Chr19:50918935 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.*27G>A | single nucleotide variant | not specified [RCV002269100] | Chr19:50417974 [GRCh38] Chr19:50921231 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.434C>A (p.Ala145Asp) | single nucleotide variant | not provided [RCV002267498] | Chr19:50401895 [GRCh38] Chr19:50905152 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+36C>G | single nucleotide variant | not specified [RCV002269079] | Chr19:50402571 [GRCh38] Chr19:50905828 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1672dup (p.Gln558fs) | duplication | not specified [RCV002269083] | Chr19:50407157..50407158 [GRCh38] Chr19:50910414..50910415 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+37G>A | single nucleotide variant | not specified [RCV002269087] | Chr19:50409703 [GRCh38] Chr19:50912960 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+23C>G | single nucleotide variant | not specified [RCV002269082] | Chr19:50406540 [GRCh38] Chr19:50909797 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820+34C>T | single nucleotide variant | not specified [RCV002269094] | Chr19:50415860 [GRCh38] Chr19:50919117 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-1-44T>C | single nucleotide variant | not specified [RCV002269127] | Chr19:50398807 [GRCh38] Chr19:50902064 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.1686+42C>T | single nucleotide variant | not specified [RCV002269084] | Chr19:50407216 [GRCh38] Chr19:50910473 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+21C>T | single nucleotide variant | not specified [RCV002269089] | Chr19:50415011 [GRCh38] Chr19:50918268 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-32_2565-31del | deletion | not specified [RCV002269090] | Chr19:50415404..50415405 [GRCh38] Chr19:50918661..50918662 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.506A>T (p.Asn169Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002290330] | Chr19:50402041 [GRCh38] Chr19:50905298 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.624G>C (p.Pro208=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003098179]|Hereditary cancer-predisposing syndrome [RCV002366671] | Chr19:50402239 [GRCh38] Chr19:50905496 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.801G>A (p.Glu267=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419265] | Chr19:50402496 [GRCh38] Chr19:50905753 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3300A>T (p.Gly1100=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454696] | Chr19:50417923 [GRCh38] Chr19:50921180 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.633C>A (p.Arg211=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368920] | Chr19:50402248 [GRCh38] Chr19:50905505 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2895C>T (p.Pro965=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437967] | Chr19:50416470 [GRCh38] Chr19:50919727 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.675T>A (p.Arg225=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369271] | Chr19:50402290 [GRCh38] Chr19:50905547 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.666G>T (p.Pro222=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002366955] | Chr19:50402281 [GRCh38] Chr19:50905538 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2046G>A (p.Arg682=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420003] | Chr19:50409558 [GRCh38] Chr19:50912815 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3033C>T (p.Cys1011=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641053]|Hereditary cancer-predisposing syndrome [RCV002438127] | Chr19:50416689 [GRCh38] Chr19:50919946 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.368_369insGTGCCTGTGCTCCGTGCC (p.Pro123_Val124insCysLeuCysSerValPro) | insertion | Hereditary cancer-predisposing syndrome [RCV002452718] | Chr19:50401819..50401820 [GRCh38] Chr19:50905076..50905077 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1326C>G (p.Gly442=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385792] | Chr19:50406265 [GRCh38] Chr19:50909522 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.*22C>T | single nucleotide variant | not specified [RCV002269099] | Chr19:50417969 [GRCh38] Chr19:50921226 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+38A>C | single nucleotide variant | not specified [RCV002269130] | Chr19:50399091 [GRCh38] Chr19:50902348 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+48G>A | single nucleotide variant | not specified [RCV002269131] | Chr19:50399532 [GRCh38] Chr19:50902789 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3018C>A (p.Ala1006=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435846] | Chr19:50416674 [GRCh38] Chr19:50919931 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.204G>A (p.Gly68=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420066] | Chr19:50399372 [GRCh38] Chr19:50902629 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1328G>C (p.Arg443Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385841] | Chr19:50406267 [GRCh38] Chr19:50909524 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1329G>A (p.Arg443=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385865] | Chr19:50406268 [GRCh38] Chr19:50909525 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2219C>G (p.Thr740Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420112] | Chr19:50413490 [GRCh38] Chr19:50916747 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2595G>C (p.Gln865His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437109] | Chr19:50415468 [GRCh38] Chr19:50918725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.956G>T (p.Cys319Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385210] | Chr19:50402727 [GRCh38] Chr19:50905984 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2642T>G (p.Leu881Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002452997] | Chr19:50415515 [GRCh38] Chr19:50918772 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.131T>C (p.Met44Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385659] | Chr19:50398982 [GRCh38] Chr19:50902239 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2043C>G (p.Leu681=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419965] | Chr19:50409555 [GRCh38] Chr19:50912812 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1085C>G (p.Pro362Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003138264]|Hereditary cancer-predisposing syndrome [RCV002420070] | Chr19:50403167 [GRCh38] Chr19:50906424 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2592A>T (p.Ala864=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102001]|Hereditary cancer-predisposing syndrome [RCV002452892] | Chr19:50415465 [GRCh38] Chr19:50918722 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2622C>T (p.Asn874=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526207]|Hereditary cancer-predisposing syndrome [RCV002437241] | Chr19:50415495 [GRCh38] Chr19:50918752 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2672C>T (p.Ala891Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437295] | Chr19:50415545 [GRCh38] Chr19:50918802 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2641C>T (p.Leu881=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002452988] | Chr19:50415514 [GRCh38] Chr19:50918771 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2035_2036del (p.Asp679fs) | deletion | Hereditary cancer-predisposing syndrome [RCV002419832] | Chr19:50409546..50409547 [GRCh38] Chr19:50912803..50912804 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.709G>C (p.Gly237Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002367331] | Chr19:50402324 [GRCh38] Chr19:50905581 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2718-17A>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437461] | Chr19:50415707 [GRCh38] Chr19:50918964 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2736C>A (p.Pro912=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437524] | Chr19:50415742 [GRCh38] Chr19:50918999 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.54C>A (p.Ala18=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002351625] | Chr19:50398905 [GRCh38] Chr19:50902162 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2616G>C (p.Leu872=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002452908] | Chr19:50415489 [GRCh38] Chr19:50918746 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2633T>A (p.Ile878Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002452940] | Chr19:50415506 [GRCh38] Chr19:50918763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1509G>C (p.Gln503His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002297284] | Chr19:50406997 [GRCh38] Chr19:50910254 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2733C>T (p.Asp911=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437495] | Chr19:50415739 [GRCh38] Chr19:50918996 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1189A>G (p.Asn397Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002351293] | Chr19:50403544 [GRCh38] Chr19:50906801 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.553C>T (p.Pro185Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002351877] | Chr19:50402088 [GRCh38] Chr19:50905345 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-3C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419815] | Chr19:50399368 [GRCh38] Chr19:50902625 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.967A>G (p.Lys323Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002386984] | Chr19:50402738 [GRCh38] Chr19:50905995 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2852C>T (p.Pro951Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435382] | Chr19:50416427 [GRCh38] Chr19:50919684 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2856T>C (p.Ile952=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775399]|Hereditary cancer-predisposing syndrome [RCV002435422] | Chr19:50416431 [GRCh38] Chr19:50919688 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1480A>C (p.Ile494Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002296842]|Hereditary cancer-predisposing syndrome [RCV002391418] | Chr19:50406503 [GRCh38] Chr19:50909760 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2649C>T (p.Ile883=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102069]|Hereditary cancer-predisposing syndrome [RCV002453031] | Chr19:50415522 [GRCh38] Chr19:50918779 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2037C>T (p.Asp679=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419859] | Chr19:50409549 [GRCh38] Chr19:50912806 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971G>T (p.Gly324Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003774205]|Hereditary cancer-predisposing syndrome [RCV002387037] | Chr19:50403053 [GRCh38] Chr19:50906310 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.299A>G (p.Glu100Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435577] | Chr19:50399467 [GRCh38] Chr19:50902724 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.625T>C (p.Phe209Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002366723] | Chr19:50402240 [GRCh38] Chr19:50905497 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1542G>C (p.Lys514Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301323] | Chr19:50407030 [GRCh38] Chr19:50910287 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1169C>G (p.Pro390Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301324] | Chr19:50403524 [GRCh38] Chr19:50906781 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2970C>A (p.Arg990=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301332] | Chr19:50416626 [GRCh38] Chr19:50919883 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1123G>C (p.Glu375Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301335] | Chr19:50403205 [GRCh38] Chr19:50906462 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1096G>C (p.Ala366Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301342] | Chr19:50403178 [GRCh38] Chr19:50906435 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2065C>A (p.Arg689=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301343] | Chr19:50409577 [GRCh38] Chr19:50912834 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-2A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003012004] | Chr19:50406180 [GRCh38] Chr19:50909437 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.763A>G (p.Met255Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002726676]|Hereditary cancer-predisposing syndrome [RCV003167675] | Chr19:50402458 [GRCh38] Chr19:50905715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+31G>A | single nucleotide variant | not specified [RCV002466222] | Chr19:50416754 [GRCh38] Chr19:50920011 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.*20GGCGGG[3] | microsatellite | not specified [RCV002466225] | Chr19:50417964..50417965 [GRCh38] Chr19:50921221..50921222 [GRCh37] Chr19:19q13.33 |
likely benign |
GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3 | copy number gain | not provided [RCV002474601] | Chr19:50883114..51304591 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.459C>A (p.Pro153=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094775]|Hereditary cancer-predisposing syndrome [RCV002342321] | Chr19:50401920 [GRCh38] Chr19:50905177 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1379T>A (p.Leu460Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002303480] | Chr19:50406318 [GRCh38] Chr19:50909575 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-21G>A | single nucleotide variant | not specified [RCV002466216] | Chr19:50413405 [GRCh38] Chr19:50916662 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-45C>G | single nucleotide variant | not specified [RCV002466219] | Chr19:50415393 [GRCh38] Chr19:50918650 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2694G>A (p.Gln898=) | single nucleotide variant | not specified [RCV002466220] | Chr19:50415567 [GRCh38] Chr19:50918824 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+50C>T | single nucleotide variant | not specified [RCV002466223] | Chr19:50416773 [GRCh38] Chr19:50920030 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.78T>C (p.Asp26=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416652] | Chr19:50398929 [GRCh38] Chr19:50902186 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.192G>A (p.Gly64=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410881] | Chr19:50399043 [GRCh38] Chr19:50902300 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.414C>T (p.Cys138=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002333215] | Chr19:50401875 [GRCh38] Chr19:50905132 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.552G>C (p.Gly184=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003011930] | Chr19:50402087 [GRCh38] Chr19:50905344 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.183C>T (p.Val61=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412806] | Chr19:50399034 [GRCh38] Chr19:50902291 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.989A>C (p.Glu330Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003162189]|not provided [RCV003129210] | Chr19:50403071 [GRCh38] Chr19:50906328 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1680G>A (p.Leu560=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526183]|Hereditary cancer-predisposing syndrome [RCV002414536] | Chr19:50407168 [GRCh38] Chr19:50910425 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2172A>G (p.Gly724=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432752] | Chr19:50413443 [GRCh38] Chr19:50916700 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2575G>A (p.Gly859Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002303751] | Chr19:50415448 [GRCh38] Chr19:50918705 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2298C>A (p.Ser766=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446273] | Chr19:50413789 [GRCh38] Chr19:50917046 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.122T>C (p.Met41Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003098363]|Hereditary cancer-predisposing syndrome [RCV002377969] | Chr19:50398973 [GRCh38] Chr19:50902230 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.880G>C (p.Asp294His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449796] | Chr19:50402651 [GRCh38] Chr19:50905908 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2130G>A (p.Lys710=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417771] | Chr19:50409642 [GRCh38] Chr19:50912899 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1080T>C (p.Cys360=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417809] | Chr19:50403162 [GRCh38] Chr19:50906419 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1349G>A (p.Ser450Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387897] | Chr19:50406288 [GRCh38] Chr19:50909545 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2609A>T (p.Asp870Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426317] | Chr19:50415482 [GRCh38] Chr19:50918739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2517C>A (p.Leu839=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432996] | Chr19:50414943 [GRCh38] Chr19:50918200 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2945T>C (p.Val982Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002303896]|Hereditary cancer-predisposing syndrome [RCV003308116] | Chr19:50416520 [GRCh38] Chr19:50919777 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.677T>C (p.Leu226Pro) | single nucleotide variant | not provided [RCV003237038] | Chr19:50402292 [GRCh38] Chr19:50905549 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2743G>A (p.Ala915Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439273] | Chr19:50415749 [GRCh38] Chr19:50919006 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2745G>T (p.Ala915=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439291] | Chr19:50415751 [GRCh38] Chr19:50919008 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.120G>A (p.Leu40=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641031]|Hereditary cancer-predisposing syndrome [RCV002353192] | Chr19:50398971 [GRCh38] Chr19:50902228 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-9_3231dup | duplication | Hereditary cancer-predisposing syndrome [RCV002324657] | Chr19:50417825..50417826 [GRCh38] Chr19:50921082..50921083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.213A>C (p.Pro71=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430495] | Chr19:50399381 [GRCh38] Chr19:50902638 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2915C>T (p.Pro972Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002303960] | Chr19:50416490 [GRCh38] Chr19:50919747 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.506A>G (p.Asn169Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002304066] | Chr19:50402041 [GRCh38] Chr19:50905298 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2140C>A (p.Leu714Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430542] | Chr19:50409652 [GRCh38] Chr19:50912909 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1390C>T (p.Leu464=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396675] | Chr19:50406413 [GRCh38] Chr19:50909670 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.519C>T (p.Ser173=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002338560] | Chr19:50402054 [GRCh38] Chr19:50905311 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3254T>C (p.Val1085Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002304155] | Chr19:50417877 [GRCh38] Chr19:50921134 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1272G>T (p.Val424=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002378653] | Chr19:50406211 [GRCh38] Chr19:50909468 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1071G>A (p.Leu357=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097397]|Hereditary cancer-predisposing syndrome [RCV002423499] | Chr19:50403153 [GRCh38] Chr19:50906410 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.643G>A (p.Ala215Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361780] | Chr19:50402258 [GRCh38] Chr19:50905515 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2484C>G (p.Gly828=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430831] | Chr19:50414910 [GRCh38] Chr19:50918167 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2488G>T (p.Glu830Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430888] | Chr19:50414914 [GRCh38] Chr19:50918171 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2771A>C (p.Tyr924Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002301596] | Chr19:50415777 [GRCh38] Chr19:50919034 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1439A>G (p.His480Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002394314] | Chr19:50406462 [GRCh38] Chr19:50909719 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2636C>T (p.Ser879Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002296361] | Chr19:50415509 [GRCh38] Chr19:50918766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2713_2715del (p.Glu905del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526211]|Hereditary cancer-predisposing syndrome [RCV002431210] | Chr19:50415586..50415588 [GRCh38] Chr19:50918843..50918845 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3085T>C (p.Cys1029Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003099181]|Hereditary cancer-predisposing syndrome [RCV002325742] | Chr19:50417062 [GRCh38] Chr19:50920319 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.27A>C (p.Pro9=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441531] | Chr19:50398878 [GRCh38] Chr19:50902135 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3114G>C (p.Gln1038His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326128] | Chr19:50417091 [GRCh38] Chr19:50920348 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2647A>G (p.Ile883Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428663] | Chr19:50415520 [GRCh38] Chr19:50918777 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1358G>A (p.Gly453Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383402] | Chr19:50406297 [GRCh38] Chr19:50909554 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1363G>T (p.Val455Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383550]|not provided [RCV002509838] | Chr19:50406302 [GRCh38] Chr19:50909559 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1823C>T (p.Pro608Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002305268] | Chr19:50408832 [GRCh38] Chr19:50912089 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1592A>G (p.Asn531Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526180]|Hereditary cancer-predisposing syndrome [RCV002398456] | Chr19:50407080 [GRCh38] Chr19:50910337 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1365G>A (p.Val455=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383581] | Chr19:50406304 [GRCh38] Chr19:50909561 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1370T>C (p.Met457Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003095045]|Hereditary cancer-predisposing syndrome [RCV002383696] | Chr19:50406309 [GRCh38] Chr19:50909566 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1998C>T (p.Ala666=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641045]|Hereditary cancer-predisposing syndrome [RCV002417031] | Chr19:50409227 [GRCh38] Chr19:50912484 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1999C>A (p.Arg667=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417044] | Chr19:50409228 [GRCh38] Chr19:50912485 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2348C>T (p.Ser783Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002305286] | Chr19:50413839 [GRCh38] Chr19:50917096 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.326A>C (p.Gln109Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102346]|Hereditary cancer-predisposing syndrome [RCV002445687] | Chr19:50401787 [GRCh38] Chr19:50905044 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3281A>T (p.Gln1094Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445760] | Chr19:50417904 [GRCh38] Chr19:50921161 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-4A>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432521] | Chr19:50413422 [GRCh38] Chr19:50916679 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2967G>C (p.Thr989=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442048] | Chr19:50416623 [GRCh38] Chr19:50919880 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.333G>C (p.Val111=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326578] | Chr19:50401794 [GRCh38] Chr19:50905051 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1293C>T (p.Ile431=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641037]|Hereditary cancer-predisposing syndrome [RCV002380594] | Chr19:50406232 [GRCh38] Chr19:50909489 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1974G>A (p.Gln658=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423549] | Chr19:50409203 [GRCh38] Chr19:50912460 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1035G>T (p.Gly345=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392054] | Chr19:50403117 [GRCh38] Chr19:50906374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003103027]|Hereditary cancer-predisposing syndrome [RCV002444282] | Chr19:50416726 [GRCh38] Chr19:50919983 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1478TCA[1] (p.Ile494del) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003475368]|Hereditary cancer-predisposing syndrome [RCV002397141] | Chr19:50406499..50406501 [GRCh38] Chr19:50909756..50909758 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.729C>G (p.Pro243=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382719] | Chr19:50402344 [GRCh38] Chr19:50905601 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.5A>G (p.Asp2Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002357963] | Chr19:50398856 [GRCh38] Chr19:50902113 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1650C>T (p.Gly550=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097059]|Hereditary cancer-predisposing syndrome [RCV002395032] | Chr19:50407138 [GRCh38] Chr19:50910395 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.507C>T (p.Asn169=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003776028]|Hereditary cancer-predisposing syndrome [RCV002335874] | Chr19:50402042 [GRCh38] Chr19:50905299 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.914dup (p.Arg306fs) | duplication | Hereditary cancer-predisposing syndrome [RCV002378796] | Chr19:50402684..50402685 [GRCh38] Chr19:50905941..50905942 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1566G>C (p.Leu522=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405537] | Chr19:50407054 [GRCh38] Chr19:50910311 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1601_1612del (p.Glu534_Arg537del) | deletion | Hereditary cancer-predisposing syndrome [RCV002398696] | Chr19:50407087..50407098 [GRCh38] Chr19:50910344..50910355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2450G>T (p.Arg817Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450514] | Chr19:50414876 [GRCh38] Chr19:50918133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.463+4A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002330406] | Chr19:50401928 [GRCh38] Chr19:50905185 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2930G>A (p.Gly977Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440061] | Chr19:50416505 [GRCh38] Chr19:50919762 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1985A>C (p.Asn662Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423733] | Chr19:50409214 [GRCh38] Chr19:50912471 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1221C>A (p.Ile407=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002354050] | Chr19:50403576 [GRCh38] Chr19:50906833 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3117G>A (p.Lys1039=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320447] | Chr19:50417094 [GRCh38] Chr19:50920351 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1530G>T (p.Val510=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003095296]|Hereditary cancer-predisposing syndrome [RCV002402969] | Chr19:50407018 [GRCh38] Chr19:50910275 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.354C>A (p.Ser118=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002339724] | Chr19:50401815 [GRCh38] Chr19:50905072 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2908T>C (p.Phe970Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102863]|Hereditary cancer-predisposing syndrome [RCV002439784] | Chr19:50416483 [GRCh38] Chr19:50919740 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.750T>C (p.Phe250=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003776406]|Hereditary cancer-predisposing syndrome [RCV002393771] | Chr19:50402365 [GRCh38] Chr19:50905622 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3285C>G (p.Leu1095=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003099365]|Hereditary cancer-predisposing syndrome [RCV002445795] | Chr19:50417908 [GRCh38] Chr19:50921165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2706G>T (p.Glu902Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429045] | Chr19:50415579 [GRCh38] Chr19:50918836 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2707C>T (p.Leu903=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429050] | Chr19:50415580 [GRCh38] Chr19:50918837 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1223C>A (p.Ser408Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361850] | Chr19:50403578 [GRCh38] Chr19:50906835 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.47A>C (p.Lys16Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002337859] | Chr19:50398898 [GRCh38] Chr19:50902155 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2640G>C (p.Gln880His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002298357] | Chr19:50415513 [GRCh38] Chr19:50918770 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2571T>C (p.Pro857=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426012] | Chr19:50415444 [GRCh38] Chr19:50918701 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2710G>C (p.Ala904Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431194] | Chr19:50415583 [GRCh38] Chr19:50918840 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2916C>T (p.Pro972=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439878] | Chr19:50416491 [GRCh38] Chr19:50919748 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.726G>T (p.Ala242=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003776369]|Hereditary cancer-predisposing syndrome [RCV002382586] | Chr19:50402341 [GRCh38] Chr19:50905598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2058G>A (p.Leu686=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421915] | Chr19:50409570 [GRCh38] Chr19:50912827 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.936G>A (p.Val312=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002371724] | Chr19:50402707 [GRCh38] Chr19:50905964 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.687G>A (p.Gln229=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002362223] | Chr19:50402302 [GRCh38] Chr19:50905559 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3084C>T (p.Phe1028=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325732] | Chr19:50417061 [GRCh38] Chr19:50920318 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.341G>A (p.Gly114Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641017]|Hereditary cancer-predisposing syndrome [RCV002456925] | Chr19:50401802 [GRCh38] Chr19:50905059 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1407C>T (p.Leu469=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003095104]|Hereditary cancer-predisposing syndrome [RCV002389395] | Chr19:50406430 [GRCh38] Chr19:50909687 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.818dup (p.Tyr273Ter) | duplication | Hereditary cancer-predisposing syndrome [RCV002427842] | Chr19:50402512..50402513 [GRCh38] Chr19:50905769..50905770 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.753G>T (p.Glu251Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641034]|Hereditary cancer-predisposing syndrome [RCV002393938] | Chr19:50402368 [GRCh38] Chr19:50905625 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2493C>G (p.Ala831=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430969] | Chr19:50414919 [GRCh38] Chr19:50918176 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1079G>A (p.Cys360Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424067] | Chr19:50403161 [GRCh38] Chr19:50906418 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2447C>G (p.Ser816Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002299392] | Chr19:50414873 [GRCh38] Chr19:50918130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-9_333del | deletion | Hereditary cancer-predisposing syndrome [RCV002322703] | Chr19:50401763..50401788 [GRCh38] Chr19:50905020..50905045 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2724G>A (p.Arg908=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431318] | Chr19:50415730 [GRCh38] Chr19:50918987 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.231T>C (p.Pro77=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002448116] | Chr19:50399399 [GRCh38] Chr19:50902656 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.249A>G (p.Thr83=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431037] | Chr19:50399417 [GRCh38] Chr19:50902674 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2413A>G (p.Ser805Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002459737] | Chr19:50414839 [GRCh38] Chr19:50918096 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.234C>A (p.Arg78=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428541] | Chr19:50399402 [GRCh38] Chr19:50902659 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1978C>T (p.Leu660=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423617] | Chr19:50409207 [GRCh38] Chr19:50912464 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.278C>A (p.Pro93His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002295968] | Chr19:50399446 [GRCh38] Chr19:50902703 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1155C>G (p.Ile385Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002355205] | Chr19:50403510 [GRCh38] Chr19:50906767 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2624G>C (p.Arg875Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426427] | Chr19:50415497 [GRCh38] Chr19:50918754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.362C>G (p.Ser121Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002302091] | Chr19:50401823 [GRCh38] Chr19:50905080 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.293A>T (p.Gln98Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440144] | Chr19:50399461 [GRCh38] Chr19:50902718 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.150G>C (p.Leu50=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392178] | Chr19:50399001 [GRCh38] Chr19:50902258 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3123A>G (p.Val1041=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775050]|Hereditary cancer-predisposing syndrome [RCV002320509] | Chr19:50417174 [GRCh38] Chr19:50920431 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.554C>A (p.Pro185Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002300364] | Chr19:50402089 [GRCh38] Chr19:50905346 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1378C>G (p.Leu460Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381092] | Chr19:50406317 [GRCh38] Chr19:50909574 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.861G>A (p.Glu287=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002371146] | Chr19:50402632 [GRCh38] Chr19:50905889 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2630A>C (p.Asp877Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102047]|Hereditary cancer-predisposing syndrome [RCV002426473] | Chr19:50415503 [GRCh38] Chr19:50918760 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2646C>T (p.Val882=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641048]|Hereditary cancer-predisposing syndrome [RCV002428658] | Chr19:50415519 [GRCh38] Chr19:50918776 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.336T>C (p.Pro112=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641016]|Hereditary cancer-predisposing syndrome [RCV002451733] | Chr19:50401797 [GRCh38] Chr19:50905054 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2585C>G (p.Ala862Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426087] | Chr19:50415458 [GRCh38] Chr19:50918715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.825G>A (p.Leu275=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430180] | Chr19:50402520 [GRCh38] Chr19:50905777 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2319C>T (p.Ala773=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002448090] | Chr19:50413810 [GRCh38] Chr19:50917067 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2872C>G (p.Leu958Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003120887]|not specified [RCV002308609] | Chr19:50416447 [GRCh38] Chr19:50919704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2810T>C (p.Met937Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441703] | Chr19:50415816 [GRCh38] Chr19:50919073 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.96C>A (p.Ser32=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002376637] | Chr19:50398947 [GRCh38] Chr19:50902204 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1391T>C (p.Leu464Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396698] | Chr19:50406414 [GRCh38] Chr19:50909671 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1582G>T (p.Val528Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398265] | Chr19:50407070 [GRCh38] Chr19:50910327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1341G>C (p.Lys447Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387725] | Chr19:50406280 [GRCh38] Chr19:50909537 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2246C>G (p.Ala749Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526198]|Hereditary cancer-predisposing syndrome [RCV002428407] | Chr19:50413517 [GRCh38] Chr19:50916774 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1057C>A (p.Leu353Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526185]|Hereditary cancer-predisposing syndrome [RCV002399147] | Chr19:50403139 [GRCh38] Chr19:50906396 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2517C>G (p.Leu839=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432998] | Chr19:50414943 [GRCh38] Chr19:50918200 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1485C>G (p.Thr495=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641039]|Hereditary cancer-predisposing syndrome [RCV002389566] | Chr19:50406508 [GRCh38] Chr19:50909765 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.926_933dup (p.Val312fs) | duplication | Hereditary cancer-predisposing syndrome [RCV002371422] | Chr19:50402690..50402691 [GRCh38] Chr19:50905947..50905948 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3201G>A (p.Glu1067=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322990] | Chr19:50417252 [GRCh38] Chr19:50920509 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2148C>T (p.Ile716=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430639] | Chr19:50409660 [GRCh38] Chr19:50912917 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1522C>G (p.Leu508Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392456] | Chr19:50407010 [GRCh38] Chr19:50910267 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1131G>A (p.Leu377=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775066]|Hereditary cancer-predisposing syndrome [RCV002322739] | Chr19:50403213 [GRCh38] Chr19:50906470 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.309T>C (p.His103=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325930] | Chr19:50399477 [GRCh38] Chr19:50902734 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1733G>T (p.Gly578Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097193]|Hereditary cancer-predisposing syndrome [RCV002399218] | Chr19:50407373 [GRCh38] Chr19:50910630 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1101G>C (p.Lys367Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433079] | Chr19:50403183 [GRCh38] Chr19:50906440 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1285T>C (p.Ser429Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383176] | Chr19:50406224 [GRCh38] Chr19:50909481 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1617T>A (p.Thr539=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401000] | Chr19:50407105 [GRCh38] Chr19:50910362 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.504G>T (p.Leu168=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002335730] | Chr19:50402039 [GRCh38] Chr19:50905296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1559T>C (p.Leu520Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405369] | Chr19:50407047 [GRCh38] Chr19:50910304 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1561C>A (p.Arg521=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405425] | Chr19:50407049 [GRCh38] Chr19:50910306 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.51G>C (p.Arg17=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526148]|Hereditary cancer-predisposing syndrome [RCV002338620] | Chr19:50398902 [GRCh38] Chr19:50902159 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2055C>T (p.Val685=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421869] | Chr19:50409567 [GRCh38] Chr19:50912824 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2633T>C (p.Ile878Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526208]|Hereditary cancer-predisposing syndrome [RCV002428582] | Chr19:50415506 [GRCh38] Chr19:50918763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3217A>T (p.Ser1073Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641013]|Hereditary cancer-predisposing syndrome [RCV002324646] | Chr19:50417268 [GRCh38] Chr19:50920525 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.730T>C (p.Tyr244His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380054] | Chr19:50402345 [GRCh38] Chr19:50905602 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2529G>C (p.Leu843=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433110] | Chr19:50414955 [GRCh38] Chr19:50918212 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2465A>C (p.Asp822Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002301401] | Chr19:50414891 [GRCh38] Chr19:50918148 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.593T>C (p.Met198Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002355921] | Chr19:50402208 [GRCh38] Chr19:50905465 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1562G>T (p.Arg521Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405450] | Chr19:50407050 [GRCh38] Chr19:50910307 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.333G>T (p.Val111=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003099416]|Hereditary cancer-predisposing syndrome [RCV002326579] | Chr19:50401794 [GRCh38] Chr19:50905051 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.488A>G (p.Asp163Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002340524] | Chr19:50402023 [GRCh38] Chr19:50905280 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.116C>G (p.Ala39Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002329905] | Chr19:50398967 [GRCh38] Chr19:50902224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1375A>T (p.Met459Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383789] | Chr19:50406314 [GRCh38] Chr19:50909571 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2470A>C (p.Met824Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003101858]|Hereditary cancer-predisposing syndrome [RCV002455547] | Chr19:50414896 [GRCh38] Chr19:50918153 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2373G>C (p.Arg791=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775213]|Hereditary cancer-predisposing syndrome [RCV002457801] | Chr19:50413864 [GRCh38] Chr19:50917121 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1098C>T (p.Ala366=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003101816]|Hereditary cancer-predisposing syndrome [RCV002459935] | Chr19:50403180 [GRCh38] Chr19:50906437 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.967A>C (p.Lys323Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003475364]|Hereditary cancer-predisposing syndrome [RCV002376546] | Chr19:50402738 [GRCh38] Chr19:50905995 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3195G>A (p.Leu1065=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322898] | Chr19:50417246 [GRCh38] Chr19:50920503 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.402G>A (p.Gly134=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775798]|Hereditary cancer-predisposing syndrome [RCV002359543] | Chr19:50401863 [GRCh38] Chr19:50905120 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.180_183del (p.Val61fs) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002407898] | Chr19:50399026..50399029 [GRCh38] Chr19:50902283..50902286 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.336T>G (p.Pro112=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002451741] | Chr19:50401797 [GRCh38] Chr19:50905054 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1888C>T (p.Leu630=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407968] | Chr19:50408897 [GRCh38] Chr19:50912154 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2541_2542del (p.Leu848fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003101945]|Hereditary cancer-predisposing syndrome [RCV002455780] | Chr19:50414966..50414967 [GRCh38] Chr19:50918223..50918224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2385G>A (p.Glu795=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457939] | Chr19:50413876 [GRCh38] Chr19:50917133 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3223G>A (p.Asp1075Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445503] | Chr19:50417846 [GRCh38] Chr19:50921103 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.906G>C (p.Gly302=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002378553] | Chr19:50402677 [GRCh38] Chr19:50905934 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137G>A (p.Gln379=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641014]|Hereditary cancer-predisposing syndrome [RCV002326314] | Chr19:50403219 [GRCh38] Chr19:50906476 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.331G>A (p.Val111Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326371] | Chr19:50401792 [GRCh38] Chr19:50905049 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1362C>A (p.Arg454=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383515] | Chr19:50406301 [GRCh38] Chr19:50909558 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.369T>C (p.Pro123=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002353009] | Chr19:50401830 [GRCh38] Chr19:50905087 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2745G>C (p.Ala915=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439289] | Chr19:50415751 [GRCh38] Chr19:50919008 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1420C>A (p.Leu474Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002391811] | Chr19:50406443 [GRCh38] Chr19:50909700 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3282G>A (p.Gln1094=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445772] | Chr19:50417905 [GRCh38] Chr19:50921162 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2104G>A (p.Gly702Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002300141] | Chr19:50409616 [GRCh38] Chr19:50912873 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3286C>T (p.Leu1096=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003120897]|Hereditary cancer-predisposing syndrome [RCV002445802] | Chr19:50417909 [GRCh38] Chr19:50921166 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1299C>G (p.Asp433Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094931]|Hereditary cancer-predisposing syndrome [RCV002380719] | Chr19:50406238 [GRCh38] Chr19:50909495 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1701G>C (p.Gly567=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406325] | Chr19:50407341 [GRCh38] Chr19:50910598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1902G>A (p.Glu634=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408285] | Chr19:50409131 [GRCh38] Chr19:50912388 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2774T>C (p.Val925Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439649] | Chr19:50415780 [GRCh38] Chr19:50919037 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2487G>T (p.Leu829=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430869] | Chr19:50414913 [GRCh38] Chr19:50918170 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1705C>T (p.Leu569=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398786] | Chr19:50407345 [GRCh38] Chr19:50910602 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.583C>G (p.Arg195Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526153]|Hereditary cancer-predisposing syndrome [RCV002353269] | Chr19:50402118 [GRCh38] Chr19:50905375 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.590-1G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002355716]|not provided [RCV003235711] | Chr19:50402204 [GRCh38] Chr19:50905461 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3259A>G (p.Lys1087Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003099339]|Hereditary cancer-predisposing syndrome [RCV002324933] | Chr19:50417882 [GRCh38] Chr19:50921139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.723C>A (p.Phe241Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003776368]|Hereditary cancer-predisposing syndrome [RCV002371040] | Chr19:50402338 [GRCh38] Chr19:50905595 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2202G>T (p.Leu734=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775136]|Hereditary cancer-predisposing syndrome [RCV002425759] | Chr19:50413473 [GRCh38] Chr19:50916730 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1226G>T (p.Arg409Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375802] | Chr19:50403581 [GRCh38] Chr19:50906838 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.81T>C (p.Asp27=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427931] | Chr19:50398932 [GRCh38] Chr19:50902189 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2274C>A (p.Ser758=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445974] | Chr19:50413765 [GRCh38] Chr19:50917022 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.60G>T (p.Gly20=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002360167] | Chr19:50398911 [GRCh38] Chr19:50902168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1056C>A (p.Arg352=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398886] | Chr19:50403138 [GRCh38] Chr19:50906395 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.619T>G (p.Ser207Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002353845] | Chr19:50402234 [GRCh38] Chr19:50905491 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3044G>A (p.Cys1015Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444033] | Chr19:50416700 [GRCh38] Chr19:50919957 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.423C>T (p.Ile141=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002328180] | Chr19:50401884 [GRCh38] Chr19:50905141 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2445C>T (p.Ser815=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450470] | Chr19:50414871 [GRCh38] Chr19:50918128 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1925C>T (p.Thr642Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641044]|Hereditary cancer-predisposing syndrome [RCV002410788] | Chr19:50409154 [GRCh38] Chr19:50912411 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+4T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003095064]|Hereditary cancer-predisposing syndrome [RCV002381204] | Chr19:50406326 [GRCh38] Chr19:50909583 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1624C>A (p.Pro542Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401118] | Chr19:50407112 [GRCh38] Chr19:50910369 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1167C>T (p.Asp389=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002333437] | Chr19:50403522 [GRCh38] Chr19:50906779 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1173C>G (p.Asp391Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094663]|Hereditary cancer-predisposing syndrome [RCV002333500] | Chr19:50403528 [GRCh38] Chr19:50906785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.535G>C (p.Gly179Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641028]|Hereditary cancer-predisposing syndrome [RCV002347022] | Chr19:50402070 [GRCh38] Chr19:50905327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1706T>C (p.Leu569Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414743] | Chr19:50407346 [GRCh38] Chr19:50910603 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.606C>G (p.His202Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002358356] | Chr19:50402221 [GRCh38] Chr19:50905478 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.659T>C (p.Val220Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526155]|Hereditary cancer-predisposing syndrome [RCV002375823] | Chr19:50402274 [GRCh38] Chr19:50905531 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.660G>T (p.Val220=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375865] | Chr19:50402275 [GRCh38] Chr19:50905532 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3064C>A (p.Gln1022Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444255] | Chr19:50416720 [GRCh38] Chr19:50919977 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3039T>C (p.Ile1013=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443965] | Chr19:50416695 [GRCh38] Chr19:50919952 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.642G>T (p.Val214=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361730] | Chr19:50402257 [GRCh38] Chr19:50905514 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1222T>C (p.Ser408Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003098244]|Hereditary cancer-predisposing syndrome [RCV002361743] | Chr19:50403577 [GRCh38] Chr19:50906834 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2469C>T (p.Arg823=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526204]|Hereditary cancer-predisposing syndrome [RCV002430768] | Chr19:50414895 [GRCh38] Chr19:50918152 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.252A>G (p.Pro84=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433119] | Chr19:50399420 [GRCh38] Chr19:50902677 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.654C>G (p.Arg218=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002364347] | Chr19:50402269 [GRCh38] Chr19:50905526 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1821C>T (p.Tyr607=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526187]|Hereditary cancer-predisposing syndrome [RCV002410361] | Chr19:50408830 [GRCh38] Chr19:50912087 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.888C>T (p.Val296=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375992] | Chr19:50402659 [GRCh38] Chr19:50905916 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1488C>T (p.Asp496=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389631] | Chr19:50406511 [GRCh38] Chr19:50909768 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1411T>A (p.Ser471Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389533] | Chr19:50406434 [GRCh38] Chr19:50909691 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3054G>T (p.Val1018=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444138] | Chr19:50416710 [GRCh38] Chr19:50919967 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1824G>T (p.Pro608=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410411] | Chr19:50408833 [GRCh38] Chr19:50912090 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1827C>T (p.Ser609=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410455] | Chr19:50408836 [GRCh38] Chr19:50912093 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2325G>A (p.Gly775=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457599] | Chr19:50413816 [GRCh38] Chr19:50917073 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2319C>A (p.Ala773=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526202]|Hereditary cancer-predisposing syndrome [RCV002448089] | Chr19:50413810 [GRCh38] Chr19:50917067 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1436T>C (p.Phe479Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002394283] | Chr19:50406459 [GRCh38] Chr19:50909716 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.270G>T (p.Gln90His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431186] | Chr19:50399438 [GRCh38] Chr19:50902695 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3013T>C (p.Phe1005Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002299810] | Chr19:50416669 [GRCh38] Chr19:50919926 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2535T>C (p.Thr845=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433201] | Chr19:50414961 [GRCh38] Chr19:50918218 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2541A>G (p.Ser847=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433231] | Chr19:50414967 [GRCh38] Chr19:50918224 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1369A>T (p.Met457Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383645] | Chr19:50406308 [GRCh38] Chr19:50909565 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1372_1377del (p.Asp458_Met459del) | deletion | Hereditary cancer-predisposing syndrome [RCV002383721] | Chr19:50406308..50406313 [GRCh38] Chr19:50909565..50909570 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1698G>A (p.Glu566=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097133]|Hereditary cancer-predisposing syndrome [RCV002414674] | Chr19:50407338 [GRCh38] Chr19:50910595 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2791A>C (p.Lys931Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441426] | Chr19:50415797 [GRCh38] Chr19:50919054 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1233G>A (p.Gln411=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002362392] | Chr19:50403588 [GRCh38] Chr19:50906845 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3102T>C (p.Ser1034=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326000] | Chr19:50417079 [GRCh38] Chr19:50920336 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1606G>T (p.Ala536Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526181]|Hereditary cancer-predisposing syndrome [RCV002400873] | Chr19:50407094 [GRCh38] Chr19:50910351 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1504G>C (p.Asp502His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389980] | Chr19:50406992 [GRCh38] Chr19:50910249 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1509G>A (p.Gln503=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390052] | Chr19:50406997 [GRCh38] Chr19:50910254 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.107A>C (p.Glu36Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424154] | Chr19:50398958 [GRCh38] Chr19:50902215 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1744A>G (p.Thr582Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401449] | Chr19:50407384 [GRCh38] Chr19:50910641 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1748G>A (p.Gly583Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401529] | Chr19:50407388 [GRCh38] Chr19:50910645 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2321T>G (p.Leu774Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457570] | Chr19:50413812 [GRCh38] Chr19:50917069 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2718-20G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431232] | Chr19:50415704 [GRCh38] Chr19:50918961 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1911C>T (p.Phe637=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410540] | Chr19:50409140 [GRCh38] Chr19:50912397 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.321A>C (p.Pro107=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445462] | Chr19:50401782 [GRCh38] Chr19:50905039 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3291G>T (p.Arg1097=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326162] | Chr19:50417914 [GRCh38] Chr19:50921171 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1623G>C (p.Val541=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401108] | Chr19:50407111 [GRCh38] Chr19:50910368 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2652C>A (p.Thr884=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428688] | Chr19:50415525 [GRCh38] Chr19:50918782 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.279C>T (p.Pro93=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441505] | Chr19:50399447 [GRCh38] Chr19:50902704 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3089A>C (p.Gln1030Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325758] | Chr19:50417066 [GRCh38] Chr19:50920323 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1869G>A (p.Arg623=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415040] | Chr19:50408878 [GRCh38] Chr19:50912135 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3234C>A (p.Ile1078=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445555] | Chr19:50417857 [GRCh38] Chr19:50921114 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2952G>A (p.Leu984=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102916]|Hereditary cancer-predisposing syndrome [RCV002441884] | Chr19:50416527 [GRCh38] Chr19:50919784 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.748T>G (p.Phe250Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002391558] | Chr19:50402363 [GRCh38] Chr19:50905620 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2814G>A (p.Lys938=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441738] | Chr19:50415820 [GRCh38] Chr19:50919077 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.698T>C (p.Val233Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002364677] | Chr19:50402313 [GRCh38] Chr19:50905570 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1879G>A (p.Ala627Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003100911]|Hereditary cancer-predisposing syndrome [RCV002415259] | Chr19:50408888 [GRCh38] Chr19:50912145 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2824C>A (p.Pro942Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002294792] | Chr19:50416399 [GRCh38] Chr19:50919656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+5G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401871] | Chr19:50407420 [GRCh38] Chr19:50910677 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.159G>A (p.Gln53=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398609] | Chr19:50399010 [GRCh38] Chr19:50902267 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1134G>T (p.Leu378=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526129]|Hereditary cancer-predisposing syndrome [RCV002445613] | Chr19:50403216 [GRCh38] Chr19:50906473 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2955G>C (p.Arg985=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102919]|Hereditary cancer-predisposing syndrome [RCV002441913] | Chr19:50416611 [GRCh38] Chr19:50919868 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.321A>G (p.Pro107=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445464] | Chr19:50401782 [GRCh38] Chr19:50905039 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3220C>G (p.Arg1074Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102330]|Hereditary cancer-predisposing syndrome [RCV002445481] | Chr19:50417843 [GRCh38] Chr19:50921100 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2656G>T (p.Glu886Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428708] | Chr19:50415529 [GRCh38] Chr19:50918786 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3303C>A (p.Pro1101=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326235] | Chr19:50417926 [GRCh38] Chr19:50921183 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003098555]|Hereditary cancer-predisposing syndrome [RCV002380303] | Chr19:50403600 [GRCh38] Chr19:50906857 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1069C>A (p.Leu357Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003475373]|Hereditary cancer-predisposing syndrome [RCV002410716] | Chr19:50403151 [GRCh38] Chr19:50906408 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1069C>G (p.Leu357Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097358]|Hereditary cancer-predisposing syndrome [RCV002410738] | Chr19:50403151 [GRCh38] Chr19:50906408 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1831A>G (p.Met611Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003100872]|Hereditary cancer-predisposing syndrome [RCV002412645] | Chr19:50408840 [GRCh38] Chr19:50912097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1831A>T (p.Met611Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412650] | Chr19:50408840 [GRCh38] Chr19:50912097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1866T>G (p.Leu622=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415009] | Chr19:50408875 [GRCh38] Chr19:50912132 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1296G>A (p.Arg432=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380657] | Chr19:50406235 [GRCh38] Chr19:50909492 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.296T>G (p.Leu99Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442093] | Chr19:50399464 [GRCh38] Chr19:50902721 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2701G>A (p.Val901Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003102121]|Hereditary cancer-predisposing syndrome [RCV002429012] | Chr19:50415574 [GRCh38] Chr19:50918831 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.477G>A (p.Glu159=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002337773] | Chr19:50402012 [GRCh38] Chr19:50905269 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1175T>C (p.Val392Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002328238] | Chr19:50403530 [GRCh38] Chr19:50906787 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1008G>A (p.Gln336=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450549] | Chr19:50403090 [GRCh38] Chr19:50906347 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.494A>G (p.Gln165Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002342710] | Chr19:50402029 [GRCh38] Chr19:50905286 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1837G>T (p.Ala613Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412752] | Chr19:50408846 [GRCh38] Chr19:50912103 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.119T>C (p.Leu40Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003096700]|Hereditary cancer-predisposing syndrome [RCV002346909] | Chr19:50398970 [GRCh38] Chr19:50902227 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1701G>T (p.Gly567=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414702] | Chr19:50407341 [GRCh38] Chr19:50910598 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.108G>A (p.Glu36=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446022] | Chr19:50398959 [GRCh38] Chr19:50902216 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.442T>C (p.Phe148Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002333968] | Chr19:50401903 [GRCh38] Chr19:50905160 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.57T>G (p.Arg19=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003096879]|Hereditary cancer-predisposing syndrome [RCV002359879] | Chr19:50398908 [GRCh38] Chr19:50902165 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.727C>T (p.Pro243Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382630] | Chr19:50402342 [GRCh38] Chr19:50905599 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1875G>A (p.Gly625=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097318]|Hereditary cancer-predisposing syndrome [RCV002415181] | Chr19:50408884 [GRCh38] Chr19:50912141 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.352T>A (p.Ser118Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775655]|Hereditary cancer-predisposing syndrome [RCV002459401] | Chr19:50401813 [GRCh38] Chr19:50905070 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3124T>A (p.Ser1042Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320516] | Chr19:50417175 [GRCh38] Chr19:50920432 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2298C>T (p.Ser766=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003098786]|Hereditary cancer-predisposing syndrome [RCV002446274] | Chr19:50413789 [GRCh38] Chr19:50917046 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1714G>C (p.Val572Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003121010]|Hereditary cancer-predisposing syndrome [RCV002398952] | Chr19:50407354 [GRCh38] Chr19:50910611 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1306T>G (p.Phe436Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003094948]|Hereditary cancer-predisposing syndrome [RCV002380973] | Chr19:50406245 [GRCh38] Chr19:50909502 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1425T>A (p.Asn475Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002391929] | Chr19:50406448 [GRCh38] Chr19:50909705 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.351A>C (p.Pro117=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002459287] | Chr19:50401812 [GRCh38] Chr19:50905069 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1188C>T (p.Tyr396=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002332415] | Chr19:50403543 [GRCh38] Chr19:50906800 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.192G>T (p.Gly64=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526191]|Hereditary cancer-predisposing syndrome [RCV002410890] | Chr19:50399043 [GRCh38] Chr19:50902300 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1846C>T (p.Leu616=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097294]|Hereditary cancer-predisposing syndrome [RCV002412936] | Chr19:50408855 [GRCh38] Chr19:50912112 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.561G>C (p.Val187=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002345013] | Chr19:50402096 [GRCh38] Chr19:50905353 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.514A>G (p.Ile172Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002338240] | Chr19:50402049 [GRCh38] Chr19:50905306 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2302G>A (p.Val768Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003775178]|Hereditary cancer-predisposing syndrome [RCV002446346] | Chr19:50413793 [GRCh38] Chr19:50917050 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.556G>T (p.Ala186Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641029]|Hereditary cancer-predisposing syndrome [RCV002352054] | Chr19:50402091 [GRCh38] Chr19:50905348 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2566G>T (p.Asp856Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002425967] | Chr19:50415439 [GRCh38] Chr19:50918696 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3126C>T (p.Ser1042=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320530] | Chr19:50417177 [GRCh38] Chr19:50920434 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1013_1015del (p.Cys338del) | deletion | Hereditary cancer-predisposing syndrome [RCV002363956] | Chr19:50403093..50403095 [GRCh38] Chr19:50906350..50906352 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1581G>A (p.Met527Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405815] | Chr19:50407069 [GRCh38] Chr19:50910326 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1177A>C (p.Ile393Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002328616] | Chr19:50403532 [GRCh38] Chr19:50906789 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1351A>T (p.Met451Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387958] | Chr19:50406290 [GRCh38] Chr19:50909547 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.951C>G (p.Ile317Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003774185]|Hereditary cancer-predisposing syndrome [RCV002374202] | Chr19:50402722 [GRCh38] Chr19:50905979 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.691A>C (p.Ile231Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641033]|Hereditary cancer-predisposing syndrome [RCV002378096] | Chr19:50402306 [GRCh38] Chr19:50905563 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1266C>T (p.Gly422=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449652] | Chr19:50406205 [GRCh38] Chr19:50909462 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.383T>C (p.Phe128Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002364067] | Chr19:50401844 [GRCh38] Chr19:50905101 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2749A>C (p.Ser917Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439325] | Chr19:50415755 [GRCh38] Chr19:50919012 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.839A>G (p.Lys280Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002298046] | Chr19:50402534 [GRCh38] Chr19:50905791 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1571A>G (p.Glu524Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392610] | Chr19:50407059 [GRCh38] Chr19:50910316 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.316+5G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320932] | Chr19:50399489 [GRCh38] Chr19:50902746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2436G>T (p.Leu812=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003098874]|Hereditary cancer-predisposing syndrome [RCV002459942] | Chr19:50414862 [GRCh38] Chr19:50918119 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1387C>T (p.Leu463=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396566] | Chr19:50406410 [GRCh38] Chr19:50909667 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.749T>A (p.Phe250Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002301789]|Hereditary cancer-predisposing syndrome [RCV002391414] | Chr19:50402364 [GRCh38] Chr19:50905621 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2766C>A (p.Val922=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439545] | Chr19:50415772 [GRCh38] Chr19:50919029 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2760C>A (p.Asp920Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439496] | Chr19:50415766 [GRCh38] Chr19:50919023 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.335C>G (p.Pro112Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321054] | Chr19:50401796 [GRCh38] Chr19:50905053 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1636C>T (p.Leu546=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003774424]|Hereditary cancer-predisposing syndrome [RCV002403469] | Chr19:50407124 [GRCh38] Chr19:50910381 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2763C>G (p.Arg921=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641050]|Hereditary cancer-predisposing syndrome [RCV002439526] | Chr19:50415769 [GRCh38] Chr19:50919026 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.716C>T (p.Pro239Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003776359]|Hereditary cancer-predisposing syndrome [RCV002378386] | Chr19:50402331 [GRCh38] Chr19:50905588 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1678T>C (p.Leu560=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097103]|Hereditary cancer-predisposing syndrome [RCV002405982] | Chr19:50407166 [GRCh38] Chr19:50910423 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+1G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433419] | Chr19:50414991 [GRCh38] Chr19:50918248 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1919C>T (p.Thr640Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003097351]|Hereditary cancer-predisposing syndrome [RCV002410651] | Chr19:50409148 [GRCh38] Chr19:50912405 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.502C>G (p.Leu168Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002335613] | Chr19:50402037 [GRCh38] Chr19:50905294 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1613T>G (p.Val538Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400941] | Chr19:50407101 [GRCh38] Chr19:50910358 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464-18T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002862598] | Chr19:50401981 [GRCh38] Chr19:50905238 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2828T>C (p.Leu943Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002972675] | Chr19:50416403 [GRCh38] Chr19:50919660 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.950T>A (p.Ile317Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002816617] | Chr19:50402721 [GRCh38] Chr19:50905978 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-6C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003074568] | Chr19:50417039 [GRCh38] Chr19:50920296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+19G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003073769] | Chr19:50399072 [GRCh38] Chr19:50902329 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+4C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002861732] | Chr19:50402377 [GRCh38] Chr19:50905634 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-20G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003012009] | Chr19:50401979 [GRCh38] Chr19:50905236 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820G>A (p.Glu940=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002881179] | Chr19:50415826 [GRCh38] Chr19:50919083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003033013] | Chr19:50406339 [GRCh38] Chr19:50909596 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.754A>C (p.Ile252Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002838623] | Chr19:50402369 [GRCh38] Chr19:50905626 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002904843] | Chr19:50403482 [GRCh38] Chr19:50906739 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002905004] | Chr19:50402755 [GRCh38] Chr19:50906012 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+6T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002731218] | Chr19:50401930 [GRCh38] Chr19:50905187 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2936C>A (p.Ala979Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002996569] | Chr19:50416511 [GRCh38] Chr19:50919768 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+15C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003075940] | Chr19:50415005 [GRCh38] Chr19:50918262 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003035133] | Chr19:50403477 [GRCh38] Chr19:50906734 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002881174] | Chr19:50406529 [GRCh38] Chr19:50909786 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2149_2154+6del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003034751] | Chr19:50409660..50409671 [GRCh38] Chr19:50912917..50912928 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2885del (p.Leu962fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003012165] | Chr19:50416460 [GRCh38] Chr19:50919717 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.337G>T (p.Gly113Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003034758] | Chr19:50401798 [GRCh38] Chr19:50905055 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1000G>T (p.Val334Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003076574] | Chr19:50403082 [GRCh38] Chr19:50906339 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1823C>G (p.Pro608Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002819443] | Chr19:50408832 [GRCh38] Chr19:50912089 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002991397] | Chr19:50409680 [GRCh38] Chr19:50912937 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+11C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002994958] | Chr19:50401935 [GRCh38] Chr19:50905192 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+19T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002863183] | Chr19:50407193 [GRCh38] Chr19:50910450 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003077018] | Chr19:50399070 [GRCh38] Chr19:50902327 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002975117] | Chr19:50407194 [GRCh38] Chr19:50910451 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003075642] | Chr19:50416741 [GRCh38] Chr19:50919998 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.821C>T (p.Ala274Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002636058] | Chr19:50402516 [GRCh38] Chr19:50905773 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2960A>T (p.Asp987Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002843890]|Hereditary cancer-predisposing syndrome [RCV003375702] | Chr19:50416616 [GRCh38] Chr19:50919873 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.699G>A (p.Val233=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002690533]|Hereditary cancer-predisposing syndrome [RCV003167641] | Chr19:50402314 [GRCh38] Chr19:50905571 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1107G>A (p.Gln369=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002756333] | Chr19:50403189 [GRCh38] Chr19:50906446 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1545dup (p.Ala516fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003016758] | Chr19:50407032..50407033 [GRCh38] Chr19:50910289..50910290 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002907968] | Chr19:50403610 [GRCh38] Chr19:50906867 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1855A>T (p.Thr619Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003015175] | Chr19:50408864 [GRCh38] Chr19:50912121 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3049A>C (p.Thr1017Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002972199] | Chr19:50416705 [GRCh38] Chr19:50919962 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2985_2988dup (p.Gly997fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002838860] | Chr19:50416640..50416641 [GRCh38] Chr19:50919897..50919898 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.875G>A (p.Trp292Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002815321] | Chr19:50402646 [GRCh38] Chr19:50905903 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2233dup (p.Tyr745fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002815352] | Chr19:50413503..50413504 [GRCh38] Chr19:50916760..50916761 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1116_1117dup (p.Lys373fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003015903] | Chr19:50403195..50403196 [GRCh38] Chr19:50906452..50906453 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3134A>C (p.Asn1045Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002903717] | Chr19:50417185 [GRCh38] Chr19:50920442 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+12G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002904667] | Chr19:50417281 [GRCh38] Chr19:50920538 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1242+10G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002994667] | Chr19:50403607 [GRCh38] Chr19:50906864 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3203_3218+1dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV002994585] | Chr19:50417250..50417251 [GRCh38] Chr19:50920507..50920508 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2770_2772del (p.Tyr924del) | deletion | not provided [RCV002511353] | Chr19:50415775..50415777 [GRCh38] Chr19:50919032..50919034 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1333G>A (p.Asp445Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002776220] | Chr19:50406272 [GRCh38] Chr19:50909529 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.463+15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003075308] | Chr19:50401939 [GRCh38] Chr19:50905196 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003014991] | Chr19:50417288 [GRCh38] Chr19:50920545 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2182A>T (p.Ile728Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002996264] | Chr19:50413453 [GRCh38] Chr19:50916710 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.922G>A (p.Ala308Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002750871] | Chr19:50402693 [GRCh38] Chr19:50905950 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.563T>C (p.Leu188Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003095497] | Chr19:50402098 [GRCh38] Chr19:50905355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003015036] | Chr19:50402443 [GRCh38] Chr19:50905700 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+15A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002880340] | Chr19:50402550 [GRCh38] Chr19:50905807 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.551G>T (p.Gly184Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003012539] | Chr19:50402086 [GRCh38] Chr19:50905343 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+13T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003073996] | Chr19:50415003 [GRCh38] Chr19:50918260 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1320G>T (p.Gln440His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003015074] | Chr19:50406259 [GRCh38] Chr19:50909516 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3271G>T (p.Asp1091Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003013424]|Hereditary cancer-predisposing syndrome [RCV003377831] | Chr19:50417894 [GRCh38] Chr19:50921151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3176A>T (p.Gln1059Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003016385] | Chr19:50417227 [GRCh38] Chr19:50920484 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1330C>T (p.Arg444Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003075584] | Chr19:50406269 [GRCh38] Chr19:50909526 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-18C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002618221] | Chr19:50415420 [GRCh38] Chr19:50918677 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2484C>T (p.Gly828=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002995522] | Chr19:50414910 [GRCh38] Chr19:50918167 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-9del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002858712] | Chr19:50402195 [GRCh38] Chr19:50905452 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+14_3120+32del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002842514] | Chr19:50417109..50417127 [GRCh38] Chr19:50920366..50920384 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-10_1243-9del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV002863273] | Chr19:50406169..50406170 [GRCh38] Chr19:50909426..50909427 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+15C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003016379] | Chr19:50417284 [GRCh38] Chr19:50920541 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-19G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002819317] | Chr19:50402435 [GRCh38] Chr19:50905692 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1013G>A (p.Cys338Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002907960]|Hereditary cancer-predisposing syndrome [RCV003167885] | Chr19:50403095 [GRCh38] Chr19:50906352 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3304C>T (p.Pro1102Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002794859] | Chr19:50417927 [GRCh38] Chr19:50921184 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2557A>G (p.Ile853Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002750597] | Chr19:50414983 [GRCh38] Chr19:50918240 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1663G>A (p.Val555Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002838912] | Chr19:50407151 [GRCh38] Chr19:50910408 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1458G>A (p.Lys486=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002776218] | Chr19:50406481 [GRCh38] Chr19:50909738 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+3A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003076263] | Chr19:50416531 [GRCh38] Chr19:50919788 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.886G>A (p.Val296Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003034173] | Chr19:50402657 [GRCh38] Chr19:50905914 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+16G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002842316] | Chr19:50402551 [GRCh38] Chr19:50905808 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1833G>A (p.Met611Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003033707]|not provided [RCV003225247] | Chr19:50408842 [GRCh38] Chr19:50912099 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1142G>T (p.Trp381Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002842293]|Hereditary cancer-predisposing syndrome [RCV003167813] | Chr19:50403497 [GRCh38] Chr19:50906754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3081G>A (p.Glu1027=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002842299]|Hereditary cancer-predisposing syndrome [RCV003308299] | Chr19:50417058 [GRCh38] Chr19:50920315 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.150_151delinsAA (p.Gln51Lys) | indel | Colorectal cancer, susceptibility to, 10 [RCV003012006] | Chr19:50399001..50399002 [GRCh38] Chr19:50902258..50902259 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3043T>C (p.Cys1015Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002816249] | Chr19:50416699 [GRCh38] Chr19:50919956 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.344C>G (p.Pro115Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003034156] | Chr19:50401805 [GRCh38] Chr19:50905062 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2692C>G (p.Gln898Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002997027] | Chr19:50415565 [GRCh38] Chr19:50918822 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.700_701dup (p.Gly235fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003018744] | Chr19:50402314..50402315 [GRCh38] Chr19:50905571..50905572 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2404del (p.Leu802fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002889757] | Chr19:50414829 [GRCh38] Chr19:50918086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.496C>A (p.Arg166=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002952460] | Chr19:50402031 [GRCh38] Chr19:50905288 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002740240] | Chr19:50415427 [GRCh38] Chr19:50918684 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2369T>A (p.Ile790Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003037831] | Chr19:50413860 [GRCh38] Chr19:50917117 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+13G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002640021] | Chr19:50416736 [GRCh38] Chr19:50919993 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.710G>T (p.Gly237Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002662785] | Chr19:50402325 [GRCh38] Chr19:50905582 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3148C>G (p.Arg1050Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002796315] | Chr19:50417199 [GRCh38] Chr19:50920456 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.531del (p.Arg180fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002761127] | Chr19:50402066 [GRCh38] Chr19:50905323 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.539G>C (p.Arg180Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003021569] | Chr19:50402074 [GRCh38] Chr19:50905331 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.311A>G (p.Tyr104Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002913445] | Chr19:50399479 [GRCh38] Chr19:50902736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3141G>A (p.Leu1047=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003055210] | Chr19:50417192 [GRCh38] Chr19:50920449 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1265G>C (p.Gly422Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003055546] | Chr19:50406204 [GRCh38] Chr19:50909461 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.23G>C (p.Gly8Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002640293] | Chr19:50398874 [GRCh38] Chr19:50902131 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.693C>A (p.Ile231=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003081771] | Chr19:50402308 [GRCh38] Chr19:50905565 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-13_1687-11del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003080614] | Chr19:50407312..50407314 [GRCh38] Chr19:50910569..50910571 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1907_1908dup (p.Phe637fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002847625] | Chr19:50409135..50409136 [GRCh38] Chr19:50912392..50912393 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1046C>G (p.Pro349Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002889434] | Chr19:50403128 [GRCh38] Chr19:50906385 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+3G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002619811] | Chr19:50407418 [GRCh38] Chr19:50910675 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.3120+20_3120+34del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002848183] | Chr19:50417112..50417126 [GRCh38] Chr19:50920369..50920383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2226G>T (p.Glu742Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003017972] | Chr19:50413497 [GRCh38] Chr19:50916754 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.628C>T (p.Leu210=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002867587] | Chr19:50402243 [GRCh38] Chr19:50905500 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002847221] | Chr19:50401925 [GRCh38] Chr19:50905182 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3115A>G (p.Lys1039Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002889449] | Chr19:50417092 [GRCh38] Chr19:50920349 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002780325] | Chr19:50402439 [GRCh38] Chr19:50905696 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1547C>T (p.Ala516Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002690890] | Chr19:50407035 [GRCh38] Chr19:50910292 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.238C>T (p.Leu80Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002949413] | Chr19:50399406 [GRCh38] Chr19:50902663 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+16T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003019482] | Chr19:50407190 [GRCh38] Chr19:50910447 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-4A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002694853] | Chr19:50417041 [GRCh38] Chr19:50920298 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003038139] | Chr19:50407416 [GRCh38] Chr19:50910673 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-2del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002846306] | Chr19:50409517 [GRCh38] Chr19:50912774 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3006C>A (p.Leu1002=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003000142] | Chr19:50416662 [GRCh38] Chr19:50919919 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.781G>C (p.Val261Leu) | single nucleotide variant | Inborn genetic diseases [RCV002798411] | Chr19:50402476 [GRCh38] Chr19:50905733 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.637A>T (p.Thr213Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003079904] | Chr19:50402252 [GRCh38] Chr19:50905509 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.999T>A (p.Pro333=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002620233] | Chr19:50403081 [GRCh38] Chr19:50906338 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067G>C (p.Gly1023Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002639157] | Chr19:50416723 [GRCh38] Chr19:50919980 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.708G>A (p.Leu236=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002885110] | Chr19:50402323 [GRCh38] Chr19:50905580 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2004_2005delinsTT (p.Lys668_Arg669delinsAsnTrp) | indel | Colorectal cancer, susceptibility to, 10 [RCV002885156] | Chr19:50409233..50409234 [GRCh38] Chr19:50912490..50912491 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1781A>G (p.Tyr594Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002620302] | Chr19:50408790 [GRCh38] Chr19:50912047 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.915G>T (p.Gln305His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003036747] | Chr19:50402686 [GRCh38] Chr19:50905943 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002797253] | Chr19:50415429 [GRCh38] Chr19:50918686 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3216C>A (p.Thr1072=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002847222] | Chr19:50417267 [GRCh38] Chr19:50920524 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2585C>T (p.Ala862Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003054015] | Chr19:50415458 [GRCh38] Chr19:50918715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.176A>G (p.Gln59Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002735997] | Chr19:50399027 [GRCh38] Chr19:50902284 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1343T>C (p.Val448Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003053585] | Chr19:50406282 [GRCh38] Chr19:50909539 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.370_382dup (p.Phe128fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003053192]|not provided [RCV003108143] | Chr19:50401826..50401827 [GRCh38] Chr19:50905083..50905084 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1417A>G (p.Thr473Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002909369] | Chr19:50406440 [GRCh38] Chr19:50909697 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2711C>T (p.Ala904Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002999551] | Chr19:50415584 [GRCh38] Chr19:50918841 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+13G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003021311] | Chr19:50407187 [GRCh38] Chr19:50910444 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2546G>T (p.Arg849Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002570114] | Chr19:50414972 [GRCh38] Chr19:50918229 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-20A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003055011] | Chr19:50406162 [GRCh38] Chr19:50909419 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002636762] | Chr19:50406968 [GRCh38] Chr19:50910225 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2118C>T (p.Ala706=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003037646] | Chr19:50409630 [GRCh38] Chr19:50912887 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-18C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002847371] | Chr19:50409501 [GRCh38] Chr19:50912758 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002979730] | Chr19:50402752 [GRCh38] Chr19:50906009 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-15del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002695243] | Chr19:50406967 [GRCh38] Chr19:50910224 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1396G>A (p.Glu466Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002824872] | Chr19:50406419 [GRCh38] Chr19:50909676 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002953305] | Chr19:50403039 [GRCh38] Chr19:50906296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3072C>G (p.Ala1024=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002780433] | Chr19:50417049 [GRCh38] Chr19:50920306 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.541_542delinsTT (p.Glu181Leu) | indel | Colorectal cancer, susceptibility to, 10 [RCV003036487] | Chr19:50402076..50402077 [GRCh38] Chr19:50905333..50905334 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+20A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002760446] | Chr19:50417117 [GRCh38] Chr19:50920374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2515C>G (p.Leu839Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002761286] | Chr19:50414941 [GRCh38] Chr19:50918198 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-17T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002909430] | Chr19:50399354 [GRCh38] Chr19:50902611 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-17del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003018420] | Chr19:50406163 [GRCh38] Chr19:50909420 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+11T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003002203] | Chr19:50417280 [GRCh38] Chr19:50920537 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1874G>A (p.Gly625Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002735232] | Chr19:50408883 [GRCh38] Chr19:50912140 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003078787] | Chr19:50413739 [GRCh38] Chr19:50916996 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002998954] | Chr19:50417823 [GRCh38] Chr19:50921080 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+18G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002659526] | Chr19:50408919 [GRCh38] Chr19:50912176 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1901A>G (p.Glu634Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002847924] | Chr19:50409130 [GRCh38] Chr19:50912387 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.450C>T (p.Thr150=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003018498] | Chr19:50401911 [GRCh38] Chr19:50905168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-11T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002846145] | Chr19:50409111 [GRCh38] Chr19:50912368 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2536_2541dup (p.Ser847_Leu848insAlaSer) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002846854] | Chr19:50414961..50414962 [GRCh38] Chr19:50918218..50918219 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1629C>A (p.Leu543=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002952771] | Chr19:50407117 [GRCh38] Chr19:50910374 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1955G>T (p.Arg652Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003038627] | Chr19:50409184 [GRCh38] Chr19:50912441 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2798T>C (p.Val933Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003038825] | Chr19:50415804 [GRCh38] Chr19:50919061 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002706740] | Chr19:50415002 [GRCh38] Chr19:50918259 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-11C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003077256] | Chr19:50413415 [GRCh38] Chr19:50916672 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-19A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002868031] | Chr19:50406388 [GRCh38] Chr19:50909645 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.128A>C (p.Glu43Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003054628] | Chr19:50398979 [GRCh38] Chr19:50902236 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2364G>T (p.Ser788=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002821044] | Chr19:50413855 [GRCh38] Chr19:50917112 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1947C>G (p.Thr649=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002640112] | Chr19:50409176 [GRCh38] Chr19:50912433 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002909340] | Chr19:50406963 [GRCh38] Chr19:50910220 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.546G>A (p.Leu182=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003078110] | Chr19:50402081 [GRCh38] Chr19:50905338 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002889399] | Chr19:50401944 [GRCh38] Chr19:50905201 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+11G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002975969]|not specified [RCV003321964] | Chr19:50413532 [GRCh38] Chr19:50916789 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1031G>A (p.Trp344Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002735903] | Chr19:50403113 [GRCh38] Chr19:50906370 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3249G>T (p.Lys1083Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002820545] | Chr19:50417872 [GRCh38] Chr19:50921129 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3135T>A (p.Asn1045Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003054724] | Chr19:50417186 [GRCh38] Chr19:50920443 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.780C>A (p.Ile260=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003053111] | Chr19:50402475 [GRCh38] Chr19:50905732 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.622C>T (p.Pro208Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002639241] | Chr19:50402237 [GRCh38] Chr19:50905494 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1903G>C (p.Asp635His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002846320] | Chr19:50409132 [GRCh38] Chr19:50912389 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1920_1928del (p.Pro641_Gly643del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003038978] | Chr19:50409149..50409157 [GRCh38] Chr19:50912406..50912414 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.436C>A (p.Pro146Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003038260] | Chr19:50401897 [GRCh38] Chr19:50905154 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+19C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002953288] | Chr19:50417288 [GRCh38] Chr19:50920545 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2035G>A (p.Asp679Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003018502] | Chr19:50409547 [GRCh38] Chr19:50912804 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+11T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002979859] | Chr19:50402384 [GRCh38] Chr19:50905641 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-5C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002824991] | Chr19:50417837 [GRCh38] Chr19:50921094 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.661G>A (p.Ala221Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003019832] | Chr19:50402276 [GRCh38] Chr19:50905533 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2643_2648del (p.Val882_Ile883del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002824457] | Chr19:50415515..50415520 [GRCh38] Chr19:50918772..50918777 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+20A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002894391] | Chr19:50408921 [GRCh38] Chr19:50912178 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-4G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002626240] | Chr19:50416606 [GRCh38] Chr19:50919863 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003040919] | Chr19:50417841 [GRCh38] Chr19:50921098 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+11_2953+12inv | inversion | Colorectal cancer, susceptibility to, 10 [RCV003022959] | Chr19:50416539..50416540 [GRCh38] Chr19:50919796..50919797 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.181G>A (p.Val61Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002875695] | Chr19:50399032 [GRCh38] Chr19:50902289 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1325dup (p.Arg443fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002893928] | Chr19:50406261..50406262 [GRCh38] Chr19:50909518..50909519 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+14C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003023011] | Chr19:50413535 [GRCh38] Chr19:50916792 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3202G>T (p.Asp1068Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002959084] | Chr19:50417253 [GRCh38] Chr19:50920510 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2538C>T (p.Ala846=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003042592] | Chr19:50414964 [GRCh38] Chr19:50918221 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.10:g.50416396_50416421del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003043196] | Chr19:50416393..50416418 [GRCh38] Chr19:50919650..50919675 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1011C>A (p.Ile337=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003025837] | Chr19:50403093 [GRCh38] Chr19:50906350 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-14C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003007916] | Chr19:50413728 [GRCh38] Chr19:50916985 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-16T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003059724] | Chr19:50413726 [GRCh38] Chr19:50916983 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3067+1G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002801157] | Chr19:50416724 [GRCh38] Chr19:50919981 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2342G>A (p.Trp781Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003059577] | Chr19:50413833 [GRCh38] Chr19:50917090 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2816_2817insT (p.Glu940fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV002928258] | Chr19:50415822..50415823 [GRCh38] Chr19:50919079..50919080 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2403C>T (p.Tyr801=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002852732] | Chr19:50414829 [GRCh38] Chr19:50918086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-18T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002917949] | Chr19:50401760 [GRCh38] Chr19:50905017 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.758+15T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003022881] | Chr19:50402388 [GRCh38] Chr19:50905645 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.965G>C (p.Arg322Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003058001] | Chr19:50402736 [GRCh38] Chr19:50905993 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+16G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002801349] | Chr19:50406338 [GRCh38] Chr19:50909595 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3280C>T (p.Gln1094Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003023862] | Chr19:50417903 [GRCh38] Chr19:50921160 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003084499] | Chr19:50408917 [GRCh38] Chr19:50912174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3232A>T (p.Ile1078Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003040953] | Chr19:50417855 [GRCh38] Chr19:50921112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1022G>A (p.Gly341Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002801723] | Chr19:50403104 [GRCh38] Chr19:50906361 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2590G>C (p.Ala864Pro) | single nucleotide variant | not provided [RCV002508745] | Chr19:50415463 [GRCh38] Chr19:50918720 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.541G>C (p.Glu181Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002891109] | Chr19:50402076 [GRCh38] Chr19:50905333 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1498G>C (p.Gly500Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003024538] | Chr19:50406986 [GRCh38] Chr19:50910243 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1950A>T (p.Ser650=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002801343] | Chr19:50409179 [GRCh38] Chr19:50912436 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2444C>T (p.Ser815Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002595046] | Chr19:50414870 [GRCh38] Chr19:50918127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.549T>G (p.Thr183=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003041777] | Chr19:50402084 [GRCh38] Chr19:50905341 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2494G>A (p.Val832Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002593515] | Chr19:50414920 [GRCh38] Chr19:50918177 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.4G>T (p.Asp2Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002851677] | Chr19:50398855 [GRCh38] Chr19:50902112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002957521] | Chr19:50417167 [GRCh38] Chr19:50920424 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.439T>A (p.Tyr147Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002928841] | Chr19:50401900 [GRCh38] Chr19:50905157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.253C>T (p.Pro85Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002918018] | Chr19:50399421 [GRCh38] Chr19:50902678 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-10T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003024671] | Chr19:50403043 [GRCh38] Chr19:50906300 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1554G>A (p.Leu518=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002790432] | Chr19:50407042 [GRCh38] Chr19:50910299 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.813del (p.Lys272fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002871744] | Chr19:50402506 [GRCh38] Chr19:50905763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2361G>T (p.Pro787=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002876566] | Chr19:50413852 [GRCh38] Chr19:50917109 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-14C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002801243] | Chr19:50413728 [GRCh38] Chr19:50916985 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+7A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003008081] | Chr19:50407181 [GRCh38] Chr19:50910438 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-11del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002914970] | Chr19:50407316 [GRCh38] Chr19:50910573 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+15T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002928868] | Chr19:50406337 [GRCh38] Chr19:50909594 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1889T>C (p.Leu630Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002801788] | Chr19:50408898 [GRCh38] Chr19:50912155 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.936_938del (p.Leu313del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003042585] | Chr19:50402706..50402708 [GRCh38] Chr19:50905963..50905965 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-11T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003057736] | Chr19:50408774 [GRCh38] Chr19:50912031 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.951C>A (p.Ile317=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003040365] | Chr19:50402722 [GRCh38] Chr19:50905979 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-12A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003058830] | Chr19:50416384 [GRCh38] Chr19:50919641 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.642G>C (p.Val214=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003024067] | Chr19:50402257 [GRCh38] Chr19:50905514 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2388+12G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002574894] | Chr19:50413891 [GRCh38] Chr19:50917148 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+1G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002932691] | Chr19:50417270 [GRCh38] Chr19:50920527 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002667840] | Chr19:50408920 [GRCh38] Chr19:50912177 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2125G>A (p.Gly709Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003023642] | Chr19:50409637 [GRCh38] Chr19:50912894 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1509G>T (p.Gln503His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002829359] | Chr19:50406997 [GRCh38] Chr19:50910254 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002871652] | Chr19:50402761 [GRCh38] Chr19:50906018 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2008G>A (p.Ala670Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003039729] | Chr19:50409520 [GRCh38] Chr19:50912777 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2176C>A (p.Gln726Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003023655] | Chr19:50413447 [GRCh38] Chr19:50916704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+16C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002890740] | Chr19:50417285 [GRCh38] Chr19:50920542 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2735C>A (p.Pro912His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002625111] | Chr19:50415741 [GRCh38] Chr19:50918998 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.501G>A (p.Glu167=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002574646] | Chr19:50402036 [GRCh38] Chr19:50905293 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2820G>T (p.Glu940Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002851227] | Chr19:50415826 [GRCh38] Chr19:50919083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1533C>T (p.Tyr511=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003042456] | Chr19:50407021 [GRCh38] Chr19:50910278 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2000G>A (p.Arg667Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003057019]|not provided [RCV003128877] | Chr19:50409229 [GRCh38] Chr19:50912486 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+16_2717+17del | deletion | Colorectal cancer, susceptibility to, 10 [RCV002851790] | Chr19:50415605..50415606 [GRCh38] Chr19:50918862..50918863 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1775+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003058761] | Chr19:50407432 [GRCh38] Chr19:50910689 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3162C>G (p.Leu1054=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002871748] | Chr19:50417213 [GRCh38] Chr19:50920470 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.220G>A (p.Ala74Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002928852] | Chr19:50399388 [GRCh38] Chr19:50902645 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1809C>T (p.Phe603=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003022317] | Chr19:50408818 [GRCh38] Chr19:50912075 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003059472] | Chr19:50415723 [GRCh38] Chr19:50918980 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2886G>A (p.Leu962=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003022898] | Chr19:50416461 [GRCh38] Chr19:50919718 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-16A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003022905] | Chr19:50409106 [GRCh38] Chr19:50912363 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-13C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002625564] | Chr19:50413729 [GRCh38] Chr19:50916986 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.361T>C (p.Ser121Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003025281] | Chr19:50401822 [GRCh38] Chr19:50905079 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2040C>T (p.Pro680=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002663512] | Chr19:50409552 [GRCh38] Chr19:50912809 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3156G>C (p.Ser1052=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003040940] | Chr19:50417207 [GRCh38] Chr19:50920464 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.500A>G (p.Glu167Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003056172]|Hereditary cancer-predisposing syndrome [RCV003294407] | Chr19:50402035 [GRCh38] Chr19:50905292 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.344C>T (p.Pro115Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002711416]|not specified [RCV003493968] | Chr19:50401805 [GRCh38] Chr19:50905062 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1119G>A (p.Lys373=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002875514] | Chr19:50403201 [GRCh38] Chr19:50906458 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2402A>G (p.Tyr801Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003057731] | Chr19:50414828 [GRCh38] Chr19:50918085 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+12G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002894504] | Chr19:50417281 [GRCh38] Chr19:50920538 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+20_1383+36del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003042100] | Chr19:50406340..50406356 [GRCh38] Chr19:50909597..50909613 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2532C>G (p.Val844=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002853178] | Chr19:50414958 [GRCh38] Chr19:50918215 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.356del (p.Arg119fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003025006] | Chr19:50401817 [GRCh38] Chr19:50905074 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2162C>T (p.Thr721Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002851255] | Chr19:50413433 [GRCh38] Chr19:50916690 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2576G>A (p.Gly859Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003008546] | Chr19:50415449 [GRCh38] Chr19:50918706 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002629923] | Chr19:50416724 [GRCh38] Chr19:50919981 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002631771] | Chr19:50402386 [GRCh38] Chr19:50905643 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-15A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003065948] | Chr19:50414800 [GRCh38] Chr19:50918057 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002631078] | Chr19:50406395 [GRCh38] Chr19:50909652 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2169del (p.Phe723fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003031827] | Chr19:50413440 [GRCh38] Chr19:50916697 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2821-12A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003065857] | Chr19:50416384 [GRCh38] Chr19:50919641 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2954-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003031960] | Chr19:50416607 [GRCh38] Chr19:50919864 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2135C>T (p.Pro712Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003063922] | Chr19:50409647 [GRCh38] Chr19:50912904 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.463+14A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002601093] | Chr19:50401938 [GRCh38] Chr19:50905195 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2982G>A (p.Val994=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002578388] | Chr19:50416638 [GRCh38] Chr19:50919895 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002810850] | Chr19:50402536 [GRCh38] Chr19:50905793 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002633004] | Chr19:50402444 [GRCh38] Chr19:50905701 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2651C>T (p.Thr884Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003063919] | Chr19:50415524 [GRCh38] Chr19:50918781 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2176C>T (p.Gln726Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003029152] | Chr19:50413447 [GRCh38] Chr19:50916704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002651143] | Chr19:50407312 [GRCh38] Chr19:50910569 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.316+16A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003064311] | Chr19:50399500 [GRCh38] Chr19:50902757 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.668_670del (p.Ala223_Arg224delinsGly) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003044252] | Chr19:50402283..50402285 [GRCh38] Chr19:50905540..50905542 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+7G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002600490] | Chr19:50402542 [GRCh38] Chr19:50905799 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.117A>T (p.Ala39=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003031461] | Chr19:50398968 [GRCh38] Chr19:50902225 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.308A>G (p.His103Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002938864] | Chr19:50399476 [GRCh38] Chr19:50902733 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202+18A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003048939] | Chr19:50399071 [GRCh38] Chr19:50902328 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2073G>A (p.Leu691=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003047195] | Chr19:50409585 [GRCh38] Chr19:50912842 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+6T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003009585] | Chr19:50402130 [GRCh38] Chr19:50905387 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1265del (p.Gly422fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003062055] | Chr19:50406202 [GRCh38] Chr19:50909459 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003062057] | Chr19:50416548 [GRCh38] Chr19:50919805 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.428G>A (p.Gly143Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002833974] | Chr19:50401889 [GRCh38] Chr19:50905146 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1530G>A (p.Val510=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002791985]|Hereditary cancer-predisposing syndrome [RCV003167801] | Chr19:50407018 [GRCh38] Chr19:50910275 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3183C>T (p.Cys1061=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002856193] | Chr19:50417234 [GRCh38] Chr19:50920491 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2757C>A (p.Gly919=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002877167] | Chr19:50415763 [GRCh38] Chr19:50919020 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002598174] | Chr19:50406392 [GRCh38] Chr19:50909649 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2304G>A (p.Val768=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003029253] | Chr19:50413795 [GRCh38] Chr19:50917052 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-4G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003028073] | Chr19:50416392 [GRCh38] Chr19:50919649 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1818G>A (p.Leu606=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002877311] | Chr19:50408827 [GRCh38] Chr19:50912084 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2569C>T (p.Pro857Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003009728] | Chr19:50415442 [GRCh38] Chr19:50918699 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-5C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003011106] | Chr19:50408780 [GRCh38] Chr19:50912037 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.278_280del (p.Pro93del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002857663] | Chr19:50399445..50399447 [GRCh38] Chr19:50902702..50902704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2971T>C (p.Cys991Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002646990] | Chr19:50416627 [GRCh38] Chr19:50919884 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.575T>A (p.Leu192Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002716077] | Chr19:50402110 [GRCh38] Chr19:50905367 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2213_2216del (p.Lys738fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002671416] | Chr19:50413482..50413485 [GRCh38] Chr19:50916739..50916742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003044699] | Chr19:50406177 [GRCh38] Chr19:50909434 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1524G>A (p.Leu508=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002647248] | Chr19:50407012 [GRCh38] Chr19:50910269 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.561G>T (p.Val187=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003009827] | Chr19:50402096 [GRCh38] Chr19:50905353 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+4A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002962465] | Chr19:50399057 [GRCh38] Chr19:50902314 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+12G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003027183] | Chr19:50402385 [GRCh38] Chr19:50905642 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1120G>A (p.Glu374Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002601845] | Chr19:50403202 [GRCh38] Chr19:50906459 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003091042] | Chr19:50402438 [GRCh38] Chr19:50905695 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.620C>T (p.Ser207Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002833396] | Chr19:50402235 [GRCh38] Chr19:50905492 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.587_589+1del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003065011] | Chr19:50402119..50402122 [GRCh38] Chr19:50905376..50905379 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+5G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002746734] | Chr19:50402129 [GRCh38] Chr19:50905386 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002629032] | Chr19:50407192 [GRCh38] Chr19:50910449 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2805_2820+44del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003046487] | Chr19:50415810..50415869 [GRCh38] Chr19:50919067..50919126 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1313C>T (p.Ser438Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002720310] | Chr19:50406252 [GRCh38] Chr19:50909509 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3274C>G (p.Gln1092Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003029541] | Chr19:50417897 [GRCh38] Chr19:50921154 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-15T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002770724] | Chr19:50413411 [GRCh38] Chr19:50916668 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.280C>T (p.Leu94Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002649913] | Chr19:50399448 [GRCh38] Chr19:50902705 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+10G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002580329] | Chr19:50415600 [GRCh38] Chr19:50918857 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+17G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002899234] | Chr19:50409252 [GRCh38] Chr19:50912509 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.694C>A (p.Arg232Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003030402] | Chr19:50402309 [GRCh38] Chr19:50905566 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+12T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002770776]|not specified [RCV003321959] | Chr19:50416735 [GRCh38] Chr19:50919992 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2472G>A (p.Met824Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003029153] | Chr19:50414898 [GRCh38] Chr19:50918155 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2278_2279del (p.Met760fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV002579870] | Chr19:50413769..50413770 [GRCh38] Chr19:50917026..50917027 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.312T>C (p.Tyr104=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003030147] | Chr19:50399480 [GRCh38] Chr19:50902737 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2718-10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003090813] | Chr19:50415714 [GRCh38] Chr19:50918971 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+18T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003086227] | Chr19:50417115 [GRCh38] Chr19:50920372 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2379G>A (p.Glu793=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002834755] | Chr19:50413870 [GRCh38] Chr19:50917127 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003047369] | Chr19:50406171 [GRCh38] Chr19:50909428 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2860A>G (p.Thr954Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002601434] | Chr19:50416435 [GRCh38] Chr19:50919692 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2615T>C (p.Leu872Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002966524] | Chr19:50415488 [GRCh38] Chr19:50918745 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1885A>T (p.Lys629Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002877581] | Chr19:50408894 [GRCh38] Chr19:50912151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.794G>A (p.Trp265Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002580952] | Chr19:50402489 [GRCh38] Chr19:50905746 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+16C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002857137] | Chr19:50403235 [GRCh38] Chr19:50906492 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003087911] | Chr19:50399069 [GRCh38] Chr19:50902326 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2413_2427del (p.Ser805_Tyr809del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003088362] | Chr19:50414838..50414852 [GRCh38] Chr19:50918095..50918109 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2985C>G (p.Leu995=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002877161] | Chr19:50416641 [GRCh38] Chr19:50919898 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-4A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002650684] | Chr19:50417041 [GRCh38] Chr19:50920298 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2740A>G (p.Ser914Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003044339] | Chr19:50415746 [GRCh38] Chr19:50919003 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-10_3068-5del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003062060] | Chr19:50417034..50417039 [GRCh38] Chr19:50920291..50920296 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.29G>T (p.Gly10Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002933745] | Chr19:50398880 [GRCh38] Chr19:50902137 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1116G>A (p.Glu372=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002791893] | Chr19:50403198 [GRCh38] Chr19:50906455 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1039C>T (p.Pro347Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003061821] | Chr19:50403121 [GRCh38] Chr19:50906378 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2359C>G (p.Pro787Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003048769] | Chr19:50413850 [GRCh38] Chr19:50917107 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388+1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002647182] | Chr19:50413880 [GRCh38] Chr19:50917137 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.421A>G (p.Ile141Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002834257] | Chr19:50401882 [GRCh38] Chr19:50905139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2898C>A (p.Leu966=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002834258] | Chr19:50416473 [GRCh38] Chr19:50919730 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.704G>A (p.Gly235Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002676229] | Chr19:50402319 [GRCh38] Chr19:50905576 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1316A>G (p.Lys439Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002720858] | Chr19:50406255 [GRCh38] Chr19:50909512 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.202+14T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003045801] | Chr19:50399067 [GRCh38] Chr19:50902324 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2440T>C (p.Phe814Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002630418]|Hereditary cancer-predisposing syndrome [RCV003167483] | Chr19:50414866 [GRCh38] Chr19:50918123 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-16G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002628547] | Chr19:50416594 [GRCh38] Chr19:50919851 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3292C>A (p.Arg1098Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003029271] | Chr19:50417915 [GRCh38] Chr19:50921172 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3264C>A (p.Asp1088Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003045188] | Chr19:50417887 [GRCh38] Chr19:50921144 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003087880] | Chr19:50409681 [GRCh38] Chr19:50912938 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002632118] | Chr19:50406338 [GRCh38] Chr19:50909595 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-11C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003091185] | Chr19:50406396 [GRCh38] Chr19:50909653 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2833dup (p.Val945fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV002856311] | Chr19:50416407..50416408 [GRCh38] Chr19:50919664..50919665 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2397C>T (p.Phe799=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003027502] | Chr19:50414823 [GRCh38] Chr19:50918080 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2549G>T (p.Arg850Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003051697] | Chr19:50414975 [GRCh38] Chr19:50918232 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.356_357delinsAT (p.Arg119His) | indel | Colorectal cancer, susceptibility to, 10 [RCV002658393] | Chr19:50401817..50401818 [GRCh38] Chr19:50905074..50905075 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-6C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003067669] | Chr19:50401993 [GRCh38] Chr19:50905250 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+17A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003068896] | Chr19:50416740 [GRCh38] Chr19:50919997 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-20C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003032200] | Chr19:50408765 [GRCh38] Chr19:50912022 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-3T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002653905] | Chr19:50406404 [GRCh38] Chr19:50909661 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2609A>G (p.Asp870Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003093682] | Chr19:50415482 [GRCh38] Chr19:50918739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+13dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003072529] | Chr19:50409676..50409677 [GRCh38] Chr19:50912933..50912934 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.23G>A (p.Gly8Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002583566] | Chr19:50398874 [GRCh38] Chr19:50902131 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.39G>T (p.Val13=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003052567] | Chr19:50398890 [GRCh38] Chr19:50902147 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1576C>T (p.Leu526Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003069538] | Chr19:50407064 [GRCh38] Chr19:50910321 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002721905] | Chr19:50417825 [GRCh38] Chr19:50921082 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3155C>A (p.Ser1052Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003092544] | Chr19:50417206 [GRCh38] Chr19:50920463 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2534C>T (p.Thr845Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003067724] | Chr19:50414960 [GRCh38] Chr19:50918217 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3247A>G (p.Lys1083Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002588505] | Chr19:50417870 [GRCh38] Chr19:50921127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002586693] | Chr19:50401985 [GRCh38] Chr19:50905242 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.59G>T (p.Gly20Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003050100] | Chr19:50398910 [GRCh38] Chr19:50902167 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-13C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002612087] | Chr19:50417159 [GRCh38] Chr19:50920416 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2953+17G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002612239] | Chr19:50416545 [GRCh38] Chr19:50919802 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.320C>A (p.Pro107Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002589908]|Hereditary cancer-predisposing syndrome [RCV003167459] | Chr19:50401781 [GRCh38] Chr19:50905038 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002633314] | Chr19:50406168 [GRCh38] Chr19:50909425 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_002691.4(POLD1):c.2954-20A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV002725961] | Chr19:50416590 [GRCh38] Chr19:50919847 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1700G>A (p.Gly567Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003777103]|Hereditary cancer-predisposing syndrome [RCV003296043] | Chr19:50407340 [GRCh38] Chr19:50910597 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.436C>T (p.Pro146Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296044] | Chr19:50401897 [GRCh38] Chr19:50905154 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1327C>T (p.Arg443Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525383]|Hereditary cancer-predisposing syndrome [RCV003296045] | Chr19:50406266 [GRCh38] Chr19:50909523 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2928G>A (p.Glu976=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181524] | Chr19:50416503 [GRCh38] Chr19:50919760 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1196A>G (p.Gln399Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525365]|Hereditary cancer-predisposing syndrome [RCV003181525] | Chr19:50403551 [GRCh38] Chr19:50906808 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3198C>A (p.His1066Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181526] | Chr19:50417249 [GRCh38] Chr19:50920506 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1638G>A (p.Leu546=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525366]|Hereditary cancer-predisposing syndrome [RCV003181528] | Chr19:50407126 [GRCh38] Chr19:50910383 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2474A>G (p.Asp825Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181529] | Chr19:50414900 [GRCh38] Chr19:50918157 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.409G>C (p.Val137Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181530] | Chr19:50401870 [GRCh38] Chr19:50905127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2148C>A (p.Ile716=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181531] | Chr19:50409660 [GRCh38] Chr19:50912917 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2997G>T (p.Val999=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181532] | Chr19:50416653 [GRCh38] Chr19:50919910 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2931C>G (p.Gly977=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181533] | Chr19:50416506 [GRCh38] Chr19:50919763 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.993G>A (p.Arg331=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181534] | Chr19:50403075 [GRCh38] Chr19:50906332 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1122G>A (p.Glu374=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181535] | Chr19:50403204 [GRCh38] Chr19:50906461 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1173C>A (p.Asp391Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181536] | Chr19:50403528 [GRCh38] Chr19:50906785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.842C>T (p.Ala281Val) | single nucleotide variant | Inborn genetic diseases [RCV003215574] | Chr19:50402613 [GRCh38] Chr19:50905870 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2842C>T (p.His948Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003779772]|Hereditary cancer-predisposing syndrome [RCV003213801] | Chr19:50416417 [GRCh38] Chr19:50919674 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-19_1384-12del | microsatellite | not provided [RCV003221747] | Chr19:50406379..50406386 [GRCh38] Chr19:50909636..50909643 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1273G>A (p.Ala425Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168215] | Chr19:50406212 [GRCh38] Chr19:50909469 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1653G>T (p.Gln551His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168216] | Chr19:50407141 [GRCh38] Chr19:50910398 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.428G>T (p.Gly143Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216476] | Chr19:50401889 [GRCh38] Chr19:50905146 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2999G>A (p.Gly1000Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216477] | Chr19:50416655 [GRCh38] Chr19:50919912 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.303T>G (p.Ile101Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216478] | Chr19:50399471 [GRCh38] Chr19:50902728 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1066A>G (p.Thr356Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003779758]|Hereditary cancer-predisposing syndrome [RCV003216479] | Chr19:50403148 [GRCh38] Chr19:50906405 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3022C>A (p.Arg1008Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525380]|not provided [RCV003228414] | Chr19:50416678 [GRCh38] Chr19:50919935 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1124A>G (p.Glu375Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003181523] | Chr19:50403206 [GRCh38] Chr19:50906463 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1692G>T (p.Met564Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003213810] | Chr19:50407332 [GRCh38] Chr19:50910589 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1854C>G (p.Tyr618Ter) | single nucleotide variant | Mandibular hypoplasia-deafness-progeroid syndrome [RCV003135086] | Chr19:50408863 [GRCh38] Chr19:50912120 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.406T>C (p.Ser136Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301325] | Chr19:50401867 [GRCh38] Chr19:50905124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3035G>T (p.Cys1012Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301326] | Chr19:50416691 [GRCh38] Chr19:50919948 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1953G>A (p.Val651=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301338] | Chr19:50409182 [GRCh38] Chr19:50912439 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2499C>G (p.Arg833=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003301339] | Chr19:50414925 [GRCh38] Chr19:50918182 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.879T>C (p.Ser293=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168217] | Chr19:50402650 [GRCh38] Chr19:50905907 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.673C>G (p.Arg225Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168218] | Chr19:50402288 [GRCh38] Chr19:50905545 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2721G>A (p.Met907Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641068]|Hereditary cancer-predisposing syndrome [RCV003168219] | Chr19:50415727 [GRCh38] Chr19:50918984 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2500A>C (p.Arg834=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168220] | Chr19:50414926 [GRCh38] Chr19:50918183 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.506A>C (p.Asn169Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168221] | Chr19:50402041 [GRCh38] Chr19:50905298 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1770C>G (p.Leu590=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168222] | Chr19:50407410 [GRCh38] Chr19:50910667 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.662C>T (p.Ala221Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641069]|Hereditary cancer-predisposing syndrome [RCV003168223] | Chr19:50402277 [GRCh38] Chr19:50905534 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2004G>A (p.Lys668=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168224] | Chr19:50409233 [GRCh38] Chr19:50912490 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2889C>T (p.Ala963=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168225] | Chr19:50416464 [GRCh38] Chr19:50919721 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1732G>C (p.Gly578Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168226] | Chr19:50407372 [GRCh38] Chr19:50910629 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1227G>A (p.Arg409=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003168227] | Chr19:50403582 [GRCh38] Chr19:50906839 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2832C>G (p.Phe944Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003213760] | Chr19:50416407 [GRCh38] Chr19:50919664 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2293G>T (p.Val765Leu) | single nucleotide variant | not provided [RCV003324954] | Chr19:50413784 [GRCh38] Chr19:50917041 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2837T>G (p.Leu946Arg) | single nucleotide variant | not specified [RCV003322418] | Chr19:50416412 [GRCh38] Chr19:50919669 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-34C>T | single nucleotide variant | not specified [RCV003322411] | Chr19:50409485 [GRCh38] Chr19:50912742 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+15_2250+24del | deletion | not specified [RCV003322412] | Chr19:50413529..50413538 [GRCh38] Chr19:50916786..50916795 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-30T>C | single nucleotide variant | not specified [RCV003322400] | Chr19:50402175 [GRCh38] Chr19:50905432 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-45C>T | single nucleotide variant | not specified [RCV003322405] | Chr19:50406938 [GRCh38] Chr19:50910195 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+26C>T | single nucleotide variant | not specified [RCV003322402] | Chr19:50402767 [GRCh38] Chr19:50906024 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+53_2564+55del | microsatellite | not specified [RCV003322413] | Chr19:50415038..50415040 [GRCh38] Chr19:50918295..50918297 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.485del (p.Gly162fs) | deletion | not specified [RCV003322399] | Chr19:50402018 [GRCh38] Chr19:50905275 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2705_2717+6del | deletion | not specified [RCV003322415] | Chr19:50415577..50415595 [GRCh38] Chr19:50918834..50918852 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2820+40C>T | single nucleotide variant | not specified [RCV003322416] | Chr19:50415866 [GRCh38] Chr19:50919123 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-27C>G | single nucleotide variant | not specified [RCV003322417] | Chr19:50416369 [GRCh38] Chr19:50919626 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1911C>G (p.Phe637Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641082]|not provided [RCV003324977] | Chr19:50409140 [GRCh38] Chr19:50912397 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.764T>C (p.Met255Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641076]|Hereditary cancer-predisposing syndrome [RCV003305475] | Chr19:50402459 [GRCh38] Chr19:50905716 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1078T>C (p.Cys360Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003305477] | Chr19:50403160 [GRCh38] Chr19:50906417 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+28C>T | single nucleotide variant | not specified [RCV003322406] | Chr19:50407202 [GRCh38] Chr19:50910459 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-35G>T | single nucleotide variant | not specified [RCV003322419] | Chr19:50417807 [GRCh38] Chr19:50921064 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-34C>T | single nucleotide variant | not specified [RCV003322420] | Chr19:50417808 [GRCh38] Chr19:50921065 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1923C>G (p.Pro641=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377946]|not specified [RCV003322410] | Chr19:50409152 [GRCh38] Chr19:50912409 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-23G>C | single nucleotide variant | not specified [RCV003322401] | Chr19:50402182 [GRCh38] Chr19:50905439 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-47_971-35dup | duplication | not specified [RCV003322403] | Chr19:50403005..50403006 [GRCh38] Chr19:50906262..50906263 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-32C>G | single nucleotide variant | not specified [RCV003322407] | Chr19:50407295 [GRCh38] Chr19:50910552 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-26C>T | single nucleotide variant | not specified [RCV003322408] | Chr19:50408759 [GRCh38] Chr19:50912016 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-23G>A | single nucleotide variant | not specified [RCV003322409] | Chr19:50408762 [GRCh38] Chr19:50912019 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1354G>T (p.Val452Leu) | single nucleotide variant | not provided [RCV003325785] | Chr19:50406293 [GRCh38] Chr19:50909550 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.53C>T (p.Ala18Val) | single nucleotide variant | not provided [RCV003325808] | Chr19:50398904 [GRCh38] Chr19:50902161 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1397A>C (p.Glu466Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003338007] | Chr19:50406420 [GRCh38] Chr19:50909677 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1496A>G (p.Asn499Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380154] | Chr19:50406984 [GRCh38] Chr19:50910241 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1432A>G (p.Ser478Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380157] | Chr19:50406455 [GRCh38] Chr19:50909712 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.449C>A (p.Thr150Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380156] | Chr19:50401910 [GRCh38] Chr19:50905167 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.564G>T (p.Leu188=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003778130]|Hereditary cancer-predisposing syndrome [RCV003380153] | Chr19:50402099 [GRCh38] Chr19:50905356 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.63C>T (p.Gly21=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380155] | Chr19:50398914 [GRCh38] Chr19:50902171 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2893C>T (p.Pro965Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380159] | Chr19:50416468 [GRCh38] Chr19:50919725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3105G>T (p.Glu1035Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380162] | Chr19:50417082 [GRCh38] Chr19:50920339 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.689G>C (p.Gly230Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380163] | Chr19:50402304 [GRCh38] Chr19:50905561 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1083C>T (p.Ala361=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380164] | Chr19:50403165 [GRCh38] Chr19:50906422 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1376T>C (p.Met459Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380165] | Chr19:50406315 [GRCh38] Chr19:50909572 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.111C>A (p.Asp37Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003385766] | Chr19:50398962 [GRCh38] Chr19:50902219 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3163T>A (p.Trp1055Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003385777] | Chr19:50417214 [GRCh38] Chr19:50920471 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2331G>T (p.Glu777Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003778094]|Hereditary cancer-predisposing syndrome [RCV003385792] | Chr19:50413822 [GRCh38] Chr19:50917079 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1377G>A (p.Met459Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372427] | Chr19:50406316 [GRCh38] Chr19:50909573 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2766C>G (p.Val922=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003385750] | Chr19:50415772 [GRCh38] Chr19:50919029 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.539G>A (p.Arg180Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377482] | Chr19:50402074 [GRCh38] Chr19:50905331 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1253T>G (p.Phe418Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003472470] | Chr19:50406192 [GRCh38] Chr19:50909449 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1025T>C (p.Leu342Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003472472] | Chr19:50403107 [GRCh38] Chr19:50906364 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003873894] | Chr19:50399352 [GRCh38] Chr19:50902609 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.201C>G (p.Asp67Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003779298]|not specified [RCV003494233] | Chr19:50399052 [GRCh38] Chr19:50902309 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1408C>T (p.Arg470Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003472475] | Chr19:50406431 [GRCh38] Chr19:50909688 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2713G>C (p.Glu905Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003874986] | Chr19:50415586 [GRCh38] Chr19:50918843 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+1G>A | single nucleotide variant | not provided [RCV003477341] | Chr19:50406323 [GRCh38] Chr19:50909580 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1476C>A (p.Ser492Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003472474] | Chr19:50406499 [GRCh38] Chr19:50909756 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 | copy number gain | not provided [RCV003485200] | Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43 |
likely pathogenic |
NM_002691.4(POLD1):c.203-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525418]|not provided [RCV003480337] | Chr19:50399368 [GRCh38] Chr19:50902625 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1511C>A (p.Thr504Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003472473] | Chr19:50406999 [GRCh38] Chr19:50910256 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1454A>G (p.Gln485Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003472469] | Chr19:50406477 [GRCh38] Chr19:50909734 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1231C>G (p.Gln411Glu) | single nucleotide variant | not provided [RCV003477340] | Chr19:50403586 [GRCh38] Chr19:50906843 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-68C>T | single nucleotide variant | POLD1-related condition [RCV003399493] | Chr19:50408717 [GRCh38] Chr19:50911974 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-32C>G | single nucleotide variant | POLD1-related condition [RCV003405941] | Chr19:50408753 [GRCh38] Chr19:50912010 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.577T>G (p.Cys193Gly) | single nucleotide variant | POLD1-related condition [RCV003400391] | Chr19:50402112 [GRCh38] Chr19:50905369 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-57G>A | single nucleotide variant | not provided [RCV003415382] | Chr19:50408728 [GRCh38] Chr19:50911985 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2036A>T (p.Asp679Val) | single nucleotide variant | not provided [RCV003415383] | Chr19:50409548 [GRCh38] Chr19:50912805 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-20CG[3] | microsatellite | POLD1-related condition [RCV003397799] | Chr19:50408764..50408765 [GRCh38] Chr19:50912021..50912022 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3172T>G (p.Cys1058Gly) | single nucleotide variant | POLD1-related condition [RCV003402171] | Chr19:50417223 [GRCh38] Chr19:50920480 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.122T>G (p.Met41Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526234] | Chr19:50398973 [GRCh38] Chr19:50902230 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1143G>C (p.Trp381Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526273] | Chr19:50403498 [GRCh38] Chr19:50906755 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-11del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526292] | Chr19:50413731 [GRCh38] Chr19:50916988 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2679C>G (p.Asp893Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527559] | Chr19:50415552 [GRCh38] Chr19:50918809 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.375C>T (p.Leu125=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527563] | Chr19:50401836 [GRCh38] Chr19:50905093 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526373] | Chr19:50407324 [GRCh38] Chr19:50910581 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.915G>A (p.Gln305=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526378] | Chr19:50402686 [GRCh38] Chr19:50905943 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-4A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526436] | Chr19:50402201 [GRCh38] Chr19:50905458 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.171G>T (p.Glu57Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526478] | Chr19:50399022 [GRCh38] Chr19:50902279 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527613] | Chr19:50406974 [GRCh38] Chr19:50910231 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2055C>A (p.Val685=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526381] | Chr19:50409567 [GRCh38] Chr19:50912824 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+2_589+3del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003527518] | Chr19:50402125..50402126 [GRCh38] Chr19:50905382..50905383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1447G>C (p.Gly483Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527529] | Chr19:50406470 [GRCh38] Chr19:50909727 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.331G>C (p.Val111Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526490] | Chr19:50401792 [GRCh38] Chr19:50905049 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+20_1137+26dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003526505] | Chr19:50403236..50403237 [GRCh38] Chr19:50906493..50906494 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2368A>C (p.Ile790Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526398] | Chr19:50413859 [GRCh38] Chr19:50917116 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.196G>A (p.Ala66Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527602] | Chr19:50399047 [GRCh38] Chr19:50902304 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2987_3058del (p.Thr996_Leu1019del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526601] | Chr19:50416636..50416707 [GRCh38] Chr19:50919893..50919964 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2455G>T (p.Asp819Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526634] | Chr19:50414881 [GRCh38] Chr19:50918138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+17A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003830699] | Chr19:50416740 [GRCh38] Chr19:50919997 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3224_3225insT (p.Cys1076fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV003526635] | Chr19:50417847..50417848 [GRCh38] Chr19:50921104..50921105 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.264C>G (p.Asp88Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526802] | Chr19:50399432 [GRCh38] Chr19:50902689 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1686+24G>A | single nucleotide variant | not specified [RCV003494243] | Chr19:50407198 [GRCh38] Chr19:50910455 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526923] | Chr19:50406181 [GRCh38] Chr19:50909438 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2032A>T (p.Thr678Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526776] | Chr19:50409544 [GRCh38] Chr19:50912801 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+3G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525474] | Chr19:50403600 [GRCh38] Chr19:50906857 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.298G>A (p.Glu100Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003849308] | Chr19:50399466 [GRCh38] Chr19:50902723 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2584G>C (p.Ala862Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525475] | Chr19:50415457 [GRCh38] Chr19:50918714 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+29T>G | single nucleotide variant | not specified [RCV003494235] | Chr19:50402564 [GRCh38] Chr19:50905821 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1138-41A>T | single nucleotide variant | not specified [RCV003494238] | Chr19:50403452 [GRCh38] Chr19:50906709 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-17T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527013] | Chr19:50406966 [GRCh38] Chr19:50910223 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525552] | Chr19:50416393 [GRCh38] Chr19:50919650 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1861C>G (p.Leu621Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525584] | Chr19:50408870 [GRCh38] Chr19:50912127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1051C>G (p.Leu351Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526911] | Chr19:50403133 [GRCh38] Chr19:50906390 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.631C>G (p.Arg211Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525628] | Chr19:50402246 [GRCh38] Chr19:50905503 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526981] | Chr19:50402554 [GRCh38] Chr19:50905811 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+10_1494+11delinsAT | indel | Colorectal cancer, susceptibility to, 10 [RCV003527218] | Chr19:50406527..50406528 [GRCh38] Chr19:50909784..50909785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2464_2466del (p.Asp822del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003525732] | Chr19:50414888..50414890 [GRCh38] Chr19:50918145..50918147 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.910T>G (p.Trp304Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525814] | Chr19:50402681 [GRCh38] Chr19:50905938 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1738G>A (p.Asp580Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527299] | Chr19:50407378 [GRCh38] Chr19:50910635 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+19T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527489] | Chr19:50407434 [GRCh38] Chr19:50910691 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.984G>T (p.Glu328Asp) | single nucleotide variant | not specified [RCV003494237] | Chr19:50403066 [GRCh38] Chr19:50906323 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1494+32A>C | single nucleotide variant | not specified [RCV003494240] | Chr19:50406549 [GRCh38] Chr19:50909806 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2153A>C (p.Gln718Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527543] | Chr19:50409665 [GRCh38] Chr19:50912922 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527556] | Chr19:50409514 [GRCh38] Chr19:50912771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2664C>A (p.Thr888=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527567] | Chr19:50415537 [GRCh38] Chr19:50918794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1686+23C>T | single nucleotide variant | not specified [RCV003494242] | Chr19:50407197 [GRCh38] Chr19:50910454 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2565-45C>A | single nucleotide variant | not specified [RCV003494248] | Chr19:50415393 [GRCh38] Chr19:50918650 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3258G>T (p.Arg1086=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526727] | Chr19:50417881 [GRCh38] Chr19:50921138 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+17G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527576] | Chr19:50403236 [GRCh38] Chr19:50906493 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2301G>T (p.Ser767=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527587] | Chr19:50413792 [GRCh38] Chr19:50917049 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2248A>C (p.Lys750Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526321] | Chr19:50413519 [GRCh38] Chr19:50916776 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.447_453dup (p.Ala152fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003526344] | Chr19:50401906..50401907 [GRCh38] Chr19:50905163..50905164 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+15A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526380] | Chr19:50417112 [GRCh38] Chr19:50920369 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+22_970+24dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003526392] | Chr19:50402760..50402761 [GRCh38] Chr19:50906017..50906018 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+26_2564+62del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526985] | Chr19:50415001..50415037 [GRCh38] Chr19:50918258..50918294 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527208] | Chr19:50402551 [GRCh38] Chr19:50905808 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.482T>A (p.Met161Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527217] | Chr19:50402017 [GRCh38] Chr19:50905274 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3133_3136del (p.Asn1045fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003527229] | Chr19:50417182..50417185 [GRCh38] Chr19:50920439..50920442 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1507C>T (p.Gln503Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527238] | Chr19:50406995 [GRCh38] Chr19:50910252 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2298C>G (p.Ser766=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525526] | Chr19:50413789 [GRCh38] Chr19:50917046 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527339] | Chr19:50409682 [GRCh38] Chr19:50912939 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2758G>T (p.Asp920Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525569] | Chr19:50415764 [GRCh38] Chr19:50919021 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2863C>T (p.Gln955Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526475] | Chr19:50416438 [GRCh38] Chr19:50919695 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.363C>G (p.Ser121=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527414] | Chr19:50401824 [GRCh38] Chr19:50905081 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564_2564+15del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003525503] | Chr19:50414988..50415003 [GRCh38] Chr19:50918245..50918260 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+18C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525551] | Chr19:50403237 [GRCh38] Chr19:50906494 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2306C>G (p.Ala769Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525559] | Chr19:50413797 [GRCh38] Chr19:50917054 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2752C>T (p.Leu918=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526528] | Chr19:50415758 [GRCh38] Chr19:50919015 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3236T>A (p.Phe1079Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525599] | Chr19:50417859 [GRCh38] Chr19:50921116 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1486G>T (p.Asp496Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526567] | Chr19:50406509 [GRCh38] Chr19:50909766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-17G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526581] | Chr19:50415421 [GRCh38] Chr19:50918678 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.316+9A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525725] | Chr19:50399493 [GRCh38] Chr19:50902750 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2467_2468insTT (p.Arg823fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV003525733] | Chr19:50414893..50414894 [GRCh38] Chr19:50918150..50918151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1927G>T (p.Gly643Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525829] | Chr19:50409156 [GRCh38] Chr19:50912413 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526659] | Chr19:50403616 [GRCh38] Chr19:50906873 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1687-10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526676] | Chr19:50407317 [GRCh38] Chr19:50910574 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2022G>A (p.Leu674=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526678] | Chr19:50409534 [GRCh38] Chr19:50912791 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1243-8C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525842] | Chr19:50406174 [GRCh38] Chr19:50909431 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1448G>A (p.Gly483Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525849] | Chr19:50406471 [GRCh38] Chr19:50909728 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1138-7C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526680] | Chr19:50403486 [GRCh38] Chr19:50906743 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+12A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526681] | Chr19:50406334 [GRCh38] Chr19:50909591 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+16C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527344] | Chr19:50408917 [GRCh38] Chr19:50912174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463G>A (p.Gly155Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527415] | Chr19:50401924 [GRCh38] Chr19:50905181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3218+19C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526740] | Chr19:50417288 [GRCh38] Chr19:50920545 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.124GAG[3] (p.Glu43_Met44insGlu) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003527436] | Chr19:50398973..50398974 [GRCh38] Chr19:50902230..50902231 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527479] | Chr19:50402759 [GRCh38] Chr19:50906016 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-10C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003829786] | Chr19:50408775 [GRCh38] Chr19:50912032 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3125C>T (p.Ser1042Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526760] | Chr19:50417176 [GRCh38] Chr19:50920433 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1353G>A (p.Met451Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526761] | Chr19:50406292 [GRCh38] Chr19:50909549 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1347C>G (p.Val449=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526558] | Chr19:50406286 [GRCh38] Chr19:50909543 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1206C>T (p.Asp402=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526572] | Chr19:50403561 [GRCh38] Chr19:50906818 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2311G>A (p.Ala771Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526605] | Chr19:50413802 [GRCh38] Chr19:50917059 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3230C>G (p.Pro1077Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526611] | Chr19:50417853 [GRCh38] Chr19:50921110 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2591C>T (p.Ala864Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527005] | Chr19:50415464 [GRCh38] Chr19:50918721 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1494+9T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527209] | Chr19:50406526 [GRCh38] Chr19:50909783 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527216] | Chr19:50407318 [GRCh38] Chr19:50910575 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-20_2251-17del | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003527627] | Chr19:50413719..50413722 [GRCh38] Chr19:50916976..50916979 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.304G>C (p.Asp102His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527268] | Chr19:50399472 [GRCh38] Chr19:50902729 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893-3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525443] | Chr19:50409119 [GRCh38] Chr19:50912376 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.841-16C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525459] | Chr19:50402596 [GRCh38] Chr19:50905853 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.701C>T (p.Ala234Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527274] | Chr19:50402316 [GRCh38] Chr19:50905573 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1721dup (p.Ser575fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003527618] | Chr19:50407359..50407360 [GRCh38] Chr19:50910616..50910617 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3314_3315dup (p.Ala1106fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003527617] | Chr19:50417935..50417936 [GRCh38] Chr19:50921192..50921193 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2468G>C (p.Arg823Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525524] | Chr19:50414894 [GRCh38] Chr19:50918151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1243-9C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525540] | Chr19:50406173 [GRCh38] Chr19:50909430 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3309A>C (p.Gly1103=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525609] | Chr19:50417932 [GRCh38] Chr19:50921189 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+10G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525621] | Chr19:50403229 [GRCh38] Chr19:50906486 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.183C>A (p.Val61=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527353] | Chr19:50399034 [GRCh38] Chr19:50902291 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.688G>A (p.Gly230Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525677] | Chr19:50402303 [GRCh38] Chr19:50905560 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-40C>A | single nucleotide variant | not specified [RCV003494241] | Chr19:50406943 [GRCh38] Chr19:50910200 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+15del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526914] | Chr19:50415004 [GRCh38] Chr19:50918261 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1383+14G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527298] | Chr19:50406336 [GRCh38] Chr19:50909593 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3070G>A (p.Ala1024Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527474] | Chr19:50417047 [GRCh38] Chr19:50920304 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+4A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527490] | Chr19:50402128 [GRCh38] Chr19:50905385 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1081G>A (p.Ala361Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526246] | Chr19:50403163 [GRCh38] Chr19:50906420 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1801C>T (p.Leu601=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527053] | Chr19:50408810 [GRCh38] Chr19:50912067 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3232A>C (p.Ile1078Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527515] | Chr19:50417855 [GRCh38] Chr19:50921112 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1482C>T (p.Ile494=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527522] | Chr19:50406505 [GRCh38] Chr19:50909762 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2880G>A (p.Gln960=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526277] | Chr19:50416455 [GRCh38] Chr19:50919712 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2996T>G (p.Val999Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526278] | Chr19:50416652 [GRCh38] Chr19:50919909 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-1G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527012] | Chr19:50416609 [GRCh38] Chr19:50919866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1242+20G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527064] | Chr19:50403617 [GRCh38] Chr19:50906874 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3218+17G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527070] | Chr19:50417286 [GRCh38] Chr19:50920543 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.43C>T (p.Pro15Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527083] | Chr19:50398894 [GRCh38] Chr19:50902151 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2717+16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527084] | Chr19:50415606 [GRCh38] Chr19:50918863 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2024C>G (p.Ala675Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527538] | Chr19:50409536 [GRCh38] Chr19:50912793 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2609A>C (p.Asp870Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527549] | Chr19:50415482 [GRCh38] Chr19:50918739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+7dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003526387] | Chr19:50406326..50406327 [GRCh38] Chr19:50909583..50909584 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2456A>G (p.Asp819Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526388] | Chr19:50414882 [GRCh38] Chr19:50918139 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.186G>C (p.Leu62=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003527089] | Chr19:50399037 [GRCh38] Chr19:50902294 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.590-15T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526515] | Chr19:50402190 [GRCh38] Chr19:50905447 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+16G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525522] | Chr19:50399069 [GRCh38] Chr19:50902326 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.464-8C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526610] | Chr19:50401991 [GRCh38] Chr19:50905248 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.454G>T (p.Ala152Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526616] | Chr19:50401915 [GRCh38] Chr19:50905172 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-18T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525532] | Chr19:50417027 [GRCh38] Chr19:50920284 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.320C>T (p.Pro107Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003879759] | Chr19:50401781 [GRCh38] Chr19:50905038 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1254C>A (p.Phe418Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525577] | Chr19:50406193 [GRCh38] Chr19:50909450 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.387G>T (p.Gly129=) | single nucleotide variant | not specified [RCV003494234] | Chr19:50401848 [GRCh38] Chr19:50905105 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-18T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525592] | Chr19:50417027 [GRCh38] Chr19:50920284 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1373A>G (p.Asp458Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525597] | Chr19:50406312 [GRCh38] Chr19:50909569 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.886G>C (p.Val296Leu) | single nucleotide variant | not specified [RCV003494236] | Chr19:50402657 [GRCh38] Chr19:50905914 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2154+43C>T | single nucleotide variant | not specified [RCV003494246] | Chr19:50409709 [GRCh38] Chr19:50912966 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388+26C>T | single nucleotide variant | not specified [RCV003494247] | Chr19:50413905 [GRCh38] Chr19:50917162 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.971-19_971-18delinsCT | indel | Colorectal cancer, susceptibility to, 10 [RCV003525455] | Chr19:50403034..50403035 [GRCh38] Chr19:50906291..50906292 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.622C>G (p.Pro208Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526251] | Chr19:50402237 [GRCh38] Chr19:50905494 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2082G>A (p.Lys694=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526775] | Chr19:50409594 [GRCh38] Chr19:50912851 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1070T>C (p.Leu357Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525575] | Chr19:50403152 [GRCh38] Chr19:50906409 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1435T>C (p.Phe479Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525639] | Chr19:50406458 [GRCh38] Chr19:50909715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.255del (p.Ala86fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003525675] | Chr19:50399423 [GRCh38] Chr19:50902680 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1170dup (p.Asp391fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003525690] | Chr19:50403521..50403522 [GRCh38] Chr19:50906778..50906779 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-5A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525699] | Chr19:50399366 [GRCh38] Chr19:50902623 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+11C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526320] | Chr19:50406528 [GRCh38] Chr19:50909785 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006+37T>C | single nucleotide variant | not specified [RCV003494245] | Chr19:50409272 [GRCh38] Chr19:50912529 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1081G>T (p.Ala361Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526895] | Chr19:50403163 [GRCh38] Chr19:50906420 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525666] | Chr19:50415435 [GRCh38] Chr19:50918692 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3106C>A (p.Leu1036Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525665] | Chr19:50417083 [GRCh38] Chr19:50920340 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+10del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003525687] | Chr19:50407422 [GRCh38] Chr19:50910679 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.464-17del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526389] | Chr19:50401982 [GRCh38] Chr19:50905239 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2315T>C (p.Met772Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526396] | Chr19:50413806 [GRCh38] Chr19:50917063 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.790A>C (p.Asn264His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526405] | Chr19:50402485 [GRCh38] Chr19:50905742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+7G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526406] | Chr19:50413528 [GRCh38] Chr19:50916785 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3113A>C (p.Gln1038Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525726] | Chr19:50417090 [GRCh38] Chr19:50920347 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3208A>C (p.Ile1070Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525737] | Chr19:50417259 [GRCh38] Chr19:50920516 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-12C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526407] | Chr19:50403041 [GRCh38] Chr19:50906298 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3225C>A (p.Asp1075Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526636] | Chr19:50417848 [GRCh38] Chr19:50921105 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464-12C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525781] | Chr19:50401987 [GRCh38] Chr19:50905244 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.10:g.50413424AG[1] | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003525785] | Chr19:50413424..50413425 [GRCh38] Chr19:50916681..50916682 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1223C>T (p.Ser408Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526445] | Chr19:50403578 [GRCh38] Chr19:50906835 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2592A>G (p.Ala864=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003875835] | Chr19:50415465 [GRCh38] Chr19:50918722 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003526471] | Chr19:50417030 [GRCh38] Chr19:50920287 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2485C>T (p.Leu829=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003881358] | Chr19:50414911 [GRCh38] Chr19:50918168 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.615C>T (p.Gly205=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525440] | Chr19:50402230 [GRCh38] Chr19:50905487 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2957G>A (p.Gly986Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525854] | Chr19:50416613 [GRCh38] Chr19:50919870 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.579C>A (p.Cys193Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526526] | Chr19:50402114 [GRCh38] Chr19:50905371 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3220C>A (p.Arg1074=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526739] | Chr19:50417843 [GRCh38] Chr19:50921100 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.708G>C (p.Leu236=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525457] | Chr19:50402323 [GRCh38] Chr19:50905580 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2531T>C (p.Val844Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526552] | Chr19:50414957 [GRCh38] Chr19:50918214 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2681A>C (p.Tyr894Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526555] | Chr19:50415554 [GRCh38] Chr19:50918811 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.921T>C (p.Ile307=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526560] | Chr19:50402692 [GRCh38] Chr19:50905949 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006G>T (p.Arg669Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003526562] | Chr19:50409235 [GRCh38] Chr19:50912492 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2538del (p.Ser847fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003525493] | Chr19:50414963 [GRCh38] Chr19:50918220 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2779A>T (p.Ile927Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525497] | Chr19:50415785 [GRCh38] Chr19:50919042 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+16T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525504] | Chr19:50415006 [GRCh38] Chr19:50918263 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.840+18_840+19delinsTT | indel | Colorectal cancer, susceptibility to, 10 [RCV003525510] | Chr19:50402553..50402554 [GRCh38] Chr19:50905810..50905811 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.275_276del (p.Glu92fs) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003526606] | Chr19:50399441..50399442 [GRCh38] Chr19:50902698..50902699 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-16A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003850384] | Chr19:50417029 [GRCh38] Chr19:50920286 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2251-16T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003849539] | Chr19:50413726 [GRCh38] Chr19:50916983 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3121-2A>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003835798] | Chr19:50417170 [GRCh38] Chr19:50920427 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1322C>G (p.Thr441Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003849412] | Chr19:50406261 [GRCh38] Chr19:50909518 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1407C>G (p.Leu469=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003816177] | Chr19:50406430 [GRCh38] Chr19:50909687 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1159A>T (p.Ile387Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641846] | Chr19:50403514 [GRCh38] Chr19:50906771 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2457C>G (p.Asp819Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640645] | Chr19:50414883 [GRCh38] Chr19:50918140 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+20T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640761] | Chr19:50406342 [GRCh38] Chr19:50909599 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1265G>A (p.Gly422Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003863866] | Chr19:50406204 [GRCh38] Chr19:50909461 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.390C>T (p.Val130=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641174] | Chr19:50401851 [GRCh38] Chr19:50905108 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-8A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641185] | Chr19:50406975 [GRCh38] Chr19:50910232 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+19G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642244] | Chr19:50415609 [GRCh38] Chr19:50918866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+15T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642312] | Chr19:50407430 [GRCh38] Chr19:50910687 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.579C>T (p.Cys193=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640841] | Chr19:50402114 [GRCh38] Chr19:50905371 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2977A>G (p.Thr993Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003845373] | Chr19:50416633 [GRCh38] Chr19:50919890 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3071C>T (p.Ala1024Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641263] | Chr19:50417048 [GRCh38] Chr19:50920305 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2846G>A (p.Ser949Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641302] | Chr19:50416421 [GRCh38] Chr19:50919678 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2343G>T (p.Trp781Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641306] | Chr19:50413834 [GRCh38] Chr19:50917091 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840+18G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640375] | Chr19:50402553 [GRCh38] Chr19:50905810 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1665C>G (p.Val555=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642130] | Chr19:50407153 [GRCh38] Chr19:50910410 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-19A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642355] | Chr19:50413407 [GRCh38] Chr19:50916664 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.404T>C (p.Phe135Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003847662] | Chr19:50401865 [GRCh38] Chr19:50905122 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.658G>C (p.Val220Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641200] | Chr19:50402273 [GRCh38] Chr19:50905530 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2851C>G (p.Pro951Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003823042] | Chr19:50416426 [GRCh38] Chr19:50919683 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.714G>C (p.Thr238=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641449] | Chr19:50402329 [GRCh38] Chr19:50905586 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1585C>G (p.Leu529Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641474] | Chr19:50407073 [GRCh38] Chr19:50910330 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2451_2465dup (p.His821_Asp822insGluProAspAlaHis) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003640436] | Chr19:50414876..50414877 [GRCh38] Chr19:50918133..50918134 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2820+3C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640443] | Chr19:50415829 [GRCh38] Chr19:50919086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3068-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640449] | Chr19:50417037 [GRCh38] Chr19:50920294 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.-1-25_16del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640459] | Chr19:50398825..50398866 [GRCh38] Chr19:50902082..50902123 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-14C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640522] | Chr19:50401764 [GRCh38] Chr19:50905021 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.463+12C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003823456] | Chr19:50401936 [GRCh38] Chr19:50905193 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2373G>A (p.Arg791=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641214] | Chr19:50413864 [GRCh38] Chr19:50917121 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1137+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641232] | Chr19:50403239 [GRCh38] Chr19:50906496 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1935G>T (p.Glu645Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641239] | Chr19:50409164 [GRCh38] Chr19:50912421 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1876A>G (p.Thr626Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641266] | Chr19:50408885 [GRCh38] Chr19:50912142 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2953+9G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641579] | Chr19:50416537 [GRCh38] Chr19:50919794 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1671C>T (p.Ser557=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641588] | Chr19:50407159 [GRCh38] Chr19:50910416 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2564+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003856995] | Chr19:50414998 [GRCh38] Chr19:50918255 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1297G>T (p.Asp433Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640579] | Chr19:50406236 [GRCh38] Chr19:50909493 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1676T>C (p.Leu559Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640593] | Chr19:50407164 [GRCh38] Chr19:50910421 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-18C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641326] | Chr19:50413724 [GRCh38] Chr19:50916981 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.930dup (p.Arg311fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003641653] | Chr19:50402700..50402701 [GRCh38] Chr19:50905957..50905958 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137G>T (p.Gln379His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641684] | Chr19:50403219 [GRCh38] Chr19:50906476 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+2T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641701] | Chr19:50402126 [GRCh38] Chr19:50905383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-5C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641765] | Chr19:50406978 [GRCh38] Chr19:50910235 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.675T>C (p.Arg225=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641767] | Chr19:50402290 [GRCh38] Chr19:50905547 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.348A>G (p.Pro116=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640684] | Chr19:50401809 [GRCh38] Chr19:50905066 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2573A>G (p.Glu858Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641460] | Chr19:50415446 [GRCh38] Chr19:50918703 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2442C>T (p.Phe814=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641473] | Chr19:50414868 [GRCh38] Chr19:50918125 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1893-16A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641892] | Chr19:50409106 [GRCh38] Chr19:50912363 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-11C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641585] | Chr19:50402601 [GRCh38] Chr19:50905858 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.186G>A (p.Leu62=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641649] | Chr19:50399037 [GRCh38] Chr19:50902294 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-9T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641661] | Chr19:50416387 [GRCh38] Chr19:50919644 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.717C>A (p.Pro239=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641675] | Chr19:50402332 [GRCh38] Chr19:50905589 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2969G>C (p.Arg990Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641973] | Chr19:50416625 [GRCh38] Chr19:50919882 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2475C>A (p.Asp825Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641983] | Chr19:50414901 [GRCh38] Chr19:50918158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2251-10C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641766] | Chr19:50413732 [GRCh38] Chr19:50916989 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.541G>A (p.Glu181Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641781] | Chr19:50402076 [GRCh38] Chr19:50905333 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2215T>C (p.Tyr739His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641787] | Chr19:50413486 [GRCh38] Chr19:50916743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.687G>T (p.Gln229His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641790] | Chr19:50402302 [GRCh38] Chr19:50905559 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641802] | Chr19:50406390 [GRCh38] Chr19:50909647 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1892+17A>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641811] | Chr19:50408918 [GRCh38] Chr19:50912175 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.397dup (p.Glu133fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003641828] | Chr19:50401857..50401858 [GRCh38] Chr19:50905114..50905115 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.463+12C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641839] | Chr19:50401936 [GRCh38] Chr19:50905193 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1086C>T (p.Pro362=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642084] | Chr19:50403168 [GRCh38] Chr19:50906425 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.27_32del (p.7PG[2]) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003642090] | Chr19:50398876..50398881 [GRCh38] Chr19:50902133..50902138 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2705A>G (p.Glu902Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641136] | Chr19:50415578 [GRCh38] Chr19:50918835 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1361G>C (p.Arg454Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641165] | Chr19:50406300 [GRCh38] Chr19:50909557 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1616C>G (p.Thr539Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003852980] | Chr19:50407104 [GRCh38] Chr19:50910361 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1435T>A (p.Phe479Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641944] | Chr19:50406458 [GRCh38] Chr19:50909715 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2720T>C (p.Met907Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640418] | Chr19:50415726 [GRCh38] Chr19:50918983 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1956G>C (p.Arg652=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641184] | Chr19:50409185 [GRCh38] Chr19:50912442 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2041dup (p.Leu681fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003641249] | Chr19:50409548..50409549 [GRCh38] Chr19:50912805..50912806 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1947C>T (p.Thr649=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642035] | Chr19:50409176 [GRCh38] Chr19:50912433 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1881A>G (p.Ala627=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640444] | Chr19:50408890 [GRCh38] Chr19:50912147 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2732_2737del (p.Asp911_Pro912del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640447] | Chr19:50415737..50415742 [GRCh38] Chr19:50918994..50918999 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1396G>T (p.Glu466Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640495] | Chr19:50406419 [GRCh38] Chr19:50909676 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.521G>C (p.Arg174Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642320] | Chr19:50402056 [GRCh38] Chr19:50905313 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2179A>G (p.Met727Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641301] | Chr19:50413450 [GRCh38] Chr19:50916707 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3219-18C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641354] | Chr19:50417824 [GRCh38] Chr19:50921081 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+12G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641408] | Chr19:50417109 [GRCh38] Chr19:50920366 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1384-13_1384-11dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003642086] | Chr19:50406393..50406394 [GRCh38] Chr19:50909650..50909651 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-17G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642197] | Chr19:50408768 [GRCh38] Chr19:50912025 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2006G>A (p.Arg669Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640559] | Chr19:50409235 [GRCh38] Chr19:50912492 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2707_2715del (p.Leu903_Glu905del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640570] | Chr19:50415577..50415585 [GRCh38] Chr19:50918834..50918842 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.424C>T (p.His142Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640616] | Chr19:50401885 [GRCh38] Chr19:50905142 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641487] | Chr19:50415423 [GRCh38] Chr19:50918680 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-4C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641521] | Chr19:50402450 [GRCh38] Chr19:50905707 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2530G>T (p.Val844Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641523] | Chr19:50414956 [GRCh38] Chr19:50918213 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3078_3079del (p.Cys1026_Glu1027delinsTer) | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003863591] | Chr19:50417050..50417051 [GRCh38] Chr19:50920307..50920308 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.535G>T (p.Gly179Trp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640374] | Chr19:50402070 [GRCh38] Chr19:50905327 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+12G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642243] | Chr19:50402385 [GRCh38] Chr19:50905642 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+8G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642286] | Chr19:50413529 [GRCh38] Chr19:50916786 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642318] | Chr19:50413524 [GRCh38] Chr19:50916781 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.272C>T (p.Thr91Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640707] | Chr19:50399440 [GRCh38] Chr19:50902697 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1177A>G (p.Ile393Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641627] | Chr19:50403532 [GRCh38] Chr19:50906789 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2619C>T (p.Cys873=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641637] | Chr19:50415492 [GRCh38] Chr19:50918749 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-10dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003641660] | Chr19:50416385..50416386 [GRCh38] Chr19:50919642..50919643 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.10A>G (p.Lys4Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640406] | Chr19:50398861 [GRCh38] Chr19:50902118 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.590-11T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640412] | Chr19:50402194 [GRCh38] Chr19:50905451 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.906G>A (p.Gly302=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640489] | Chr19:50402677 [GRCh38] Chr19:50905934 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.286T>C (p.Phe96Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640496] | Chr19:50399454 [GRCh38] Chr19:50902711 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3150C>A (p.Arg1050=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640518] | Chr19:50417201 [GRCh38] Chr19:50920458 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1229C>T (p.Ala410Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640801] | Chr19:50403584 [GRCh38] Chr19:50906841 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2492C>T (p.Ala831Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640826] | Chr19:50414918 [GRCh38] Chr19:50918175 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.960C>G (p.Ala320=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641806] | Chr19:50402731 [GRCh38] Chr19:50905988 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.841-19G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640564] | Chr19:50402593 [GRCh38] Chr19:50905850 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1427C>T (p.Ala476Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640582] | Chr19:50406450 [GRCh38] Chr19:50909707 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1007A>C (p.Gln336Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640585] | Chr19:50403089 [GRCh38] Chr19:50906346 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+20G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640380] | Chr19:50407435 [GRCh38] Chr19:50910692 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.563T>A (p.Leu188Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640410] | Chr19:50402098 [GRCh38] Chr19:50905355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.462del (p.Gly155fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003642303] | Chr19:50401923 [GRCh38] Chr19:50905180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642324] | Chr19:50403050 [GRCh38] Chr19:50906307 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2701G>C (p.Val901Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640502] | Chr19:50415574 [GRCh38] Chr19:50918831 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1383+7G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640537] | Chr19:50406329 [GRCh38] Chr19:50909586 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1853A>T (p.Tyr618Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640539] | Chr19:50408862 [GRCh38] Chr19:50912119 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1893-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003872520] | Chr19:50409103 [GRCh38] Chr19:50912360 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3294C>G (p.Arg1098=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640640] | Chr19:50417917 [GRCh38] Chr19:50921174 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2254G>A (p.Val752Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640642] | Chr19:50413745 [GRCh38] Chr19:50917002 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640772] | Chr19:50417162 [GRCh38] Chr19:50920419 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3303C>T (p.Pro1101=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003853165] | Chr19:50417926 [GRCh38] Chr19:50921183 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3054G>C (p.Val1018=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641139] | Chr19:50416710 [GRCh38] Chr19:50919967 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2389-9C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641157] | Chr19:50414806 [GRCh38] Chr19:50918063 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.841-4A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641323] | Chr19:50402608 [GRCh38] Chr19:50905865 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.317-16C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641385] | Chr19:50401762 [GRCh38] Chr19:50905019 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.497_525del (p.Arg166fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641409] | Chr19:50402030..50402058 [GRCh38] Chr19:50905287..50905315 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1132C>T (p.Leu378=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003821466] | Chr19:50403214 [GRCh38] Chr19:50906471 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2028G>T (p.Lys676Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641464] | Chr19:50409540 [GRCh38] Chr19:50912797 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2545C>G (p.Arg849Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641466] | Chr19:50414971 [GRCh38] Chr19:50918228 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+14C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641498] | Chr19:50407429 [GRCh38] Chr19:50910686 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.978C>T (p.Phe326=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003869757] | Chr19:50403060 [GRCh38] Chr19:50906317 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-17C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003871565] | Chr19:50416379 [GRCh38] Chr19:50919636 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2941G>A (p.Ala981Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641513] | Chr19:50416516 [GRCh38] Chr19:50919773 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1112A>G (p.Tyr371Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641536] | Chr19:50403194 [GRCh38] Chr19:50906451 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2565-3_2565-2del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641542] | Chr19:50415434..50415435 [GRCh38] Chr19:50918691..50918692 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.662C>A (p.Ala221Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641574] | Chr19:50402277 [GRCh38] Chr19:50905534 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775G>A (p.Gly592Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641711] | Chr19:50407415 [GRCh38] Chr19:50910672 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1512C>T (p.Thr504=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641748] | Chr19:50407000 [GRCh38] Chr19:50910257 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.759-13dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003641754] | Chr19:50402436..50402437 [GRCh38] Chr19:50905693..50905694 [GRCh37] Chr19:19q13.33 |
benign |
NM_002691.4(POLD1):c.226G>A (p.Asp76Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641757] | Chr19:50399394 [GRCh38] Chr19:50902651 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1717G>A (p.Val573Met) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641759] | Chr19:50407357 [GRCh38] Chr19:50910614 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3244C>A (p.Arg1082Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641778] | Chr19:50417867 [GRCh38] Chr19:50921124 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.201del (p.Asp67fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641818] | Chr19:50399052 [GRCh38] Chr19:50902309 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3120+3_3120+5dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003641820] | Chr19:50417099..50417100 [GRCh38] Chr19:50920356..50920357 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1300T>G (p.Ser434Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641857] | Chr19:50406239 [GRCh38] Chr19:50909496 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1707G>C (p.Leu569=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641869] | Chr19:50407347 [GRCh38] Chr19:50910604 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3231C>A (p.Pro1077=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003859046] | Chr19:50417854 [GRCh38] Chr19:50921111 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.871C>T (p.Leu291=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641932] | Chr19:50402642 [GRCh38] Chr19:50905899 [GRCh37] Chr19:19q13.33 |
likely benign |
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 | copy number gain | not specified [RCV003986127] | Chr19:48905537..51614930 [GRCh37] Chr19:19q13.33-13.41 |
likely pathogenic |
NM_002691.4(POLD1):c.1384-20C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642047] | Chr19:50406387 [GRCh38] Chr19:50909644 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3206T>A (p.Val1069Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003872146] | Chr19:50417257 [GRCh38] Chr19:50920514 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.840G>C (p.Lys280Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642056] | Chr19:50402535 [GRCh38] Chr19:50905792 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2089G>A (p.Ala697Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642091] | Chr19:50409601 [GRCh38] Chr19:50912858 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3300del (p.Pro1102fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003642191] | Chr19:50417923 [GRCh38] Chr19:50921180 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.901G>A (p.Glu301Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640400] | Chr19:50402672 [GRCh38] Chr19:50905929 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-19G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003859400] | Chr19:50403034 [GRCh38] Chr19:50906291 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1283G>T (p.Cys428Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003867154] | Chr19:50406222 [GRCh38] Chr19:50909479 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+11C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640524] | Chr19:50408912 [GRCh38] Chr19:50912169 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.616C>G (p.Pro206Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640572] | Chr19:50402231 [GRCh38] Chr19:50905488 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1772_1773del (p.Lys591fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640576] | Chr19:50407411..50407412 [GRCh38] Chr19:50910668..50910669 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1497del (p.Asn499fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640588] | Chr19:50406985 [GRCh38] Chr19:50910242 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2155-12T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003871649] | Chr19:50413414 [GRCh38] Chr19:50916671 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.632G>T (p.Arg211Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641172] | Chr19:50402247 [GRCh38] Chr19:50905504 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1740C>G (p.Asp580Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641257] | Chr19:50407380 [GRCh38] Chr19:50910637 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2120A>G (p.Gln707Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003870491] | Chr19:50409632 [GRCh38] Chr19:50912889 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1137+12T>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641362] | Chr19:50403231 [GRCh38] Chr19:50906488 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2366C>T (p.Pro789Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641428] | Chr19:50413857 [GRCh38] Chr19:50917114 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.759-8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641438] | Chr19:50402446 [GRCh38] Chr19:50905703 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2039C>G (p.Pro680Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641448] | Chr19:50409551 [GRCh38] Chr19:50912808 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1986C>G (p.Asn662Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641478] | Chr19:50409215 [GRCh38] Chr19:50912472 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2887del (p.Ala963fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641483] | Chr19:50416461 [GRCh38] Chr19:50919718 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3243G>T (p.Met1081Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641518] | Chr19:50417866 [GRCh38] Chr19:50921123 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.22G>A (p.Gly8Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641527] | Chr19:50398873 [GRCh38] Chr19:50902130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3121-13C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641547] | Chr19:50417159 [GRCh38] Chr19:50920416 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2454dup (p.Asp819fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003860287] | Chr19:50414877..50414878 [GRCh38] Chr19:50918134..50918135 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.36G>T (p.Gly12=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003857507] | Chr19:50398887 [GRCh38] Chr19:50902144 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2821-26_2821-13del | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641659] | Chr19:50416365..50416378 [GRCh38] Chr19:50919622..50919635 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.490C>G (p.Leu164Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641662] | Chr19:50402025 [GRCh38] Chr19:50905282 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.486T>C (p.Gly162=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641716] | Chr19:50402021 [GRCh38] Chr19:50905278 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.589+16G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641730] | Chr19:50402140 [GRCh38] Chr19:50905397 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1687-6T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641788] | Chr19:50407321 [GRCh38] Chr19:50910578 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3120+14G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641812] | Chr19:50417111 [GRCh38] Chr19:50920368 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.578G>A (p.Cys193Tyr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003862392] | Chr19:50402113 [GRCh38] Chr19:50905370 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3109T>C (p.Tyr1037His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641834] | Chr19:50417086 [GRCh38] Chr19:50920343 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2564+15C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641654] | Chr19:50415005 [GRCh38] Chr19:50918262 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.987T>C (p.Pro329=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641678] | Chr19:50403069 [GRCh38] Chr19:50906326 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.25C>T (p.Pro9Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641687] | Chr19:50398876 [GRCh38] Chr19:50902133 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.590-7T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641693] | Chr19:50402198 [GRCh38] Chr19:50905455 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3201G>T (p.Glu1067Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641747] | Chr19:50417252 [GRCh38] Chr19:50920509 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+2T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641803] | Chr19:50402126 [GRCh38] Chr19:50905383 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1861C>T (p.Leu621Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641939] | Chr19:50408870 [GRCh38] Chr19:50912127 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2388+18G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641965] | Chr19:50413897 [GRCh38] Chr19:50917154 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1241A>G (p.Lys414Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003823250] | Chr19:50403596 [GRCh38] Chr19:50906853 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2052G>A (p.Gln684=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642151] | Chr19:50409564 [GRCh38] Chr19:50912821 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.878C>T (p.Ser293Phe) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003844492] | Chr19:50402649 [GRCh38] Chr19:50905906 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1495-14G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003848720] | Chr19:50406969 [GRCh38] Chr19:50910226 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2266_2271del (p.Thr756_Asp757del) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640376] | Chr19:50413753..50413758 [GRCh38] Chr19:50917010..50917015 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1514G>C (p.Arg505Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640423] | Chr19:50407002 [GRCh38] Chr19:50910259 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1263G>C (p.Leu421=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640437] | Chr19:50406202 [GRCh38] Chr19:50909459 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-14_3219-13delinsCT | indel | Colorectal cancer, susceptibility to, 10 [RCV003640441] | Chr19:50417828..50417829 [GRCh38] Chr19:50921085..50921086 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-20T>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640442] | Chr19:50409499 [GRCh38] Chr19:50912756 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2250+6G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641770] | Chr19:50413527 [GRCh38] Chr19:50916784 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758G>T (p.Arg253Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641773] | Chr19:50402373 [GRCh38] Chr19:50905630 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.317-4A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641920] | Chr19:50401774 [GRCh38] Chr19:50905031 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2717+8GCGGG[3] | microsatellite | Colorectal cancer, susceptibility to, 10 [RCV003640372] | Chr19:50415597..50415598 [GRCh38] Chr19:50918854..50918855 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.547_550dup (p.Gly184fs) | duplication | Colorectal cancer, susceptibility to, 10 [RCV003640381] | Chr19:50402078..50402079 [GRCh38] Chr19:50905335..50905336 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1610G>A (p.Arg537Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640394] | Chr19:50407098 [GRCh38] Chr19:50910355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1384-4C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640413] | Chr19:50406403 [GRCh38] Chr19:50909660 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+20G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640396] | Chr19:50399073 [GRCh38] Chr19:50902330 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3011C>T (p.Ala1004Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640398] | Chr19:50416667 [GRCh38] Chr19:50919924 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1931A>G (p.Asp644Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640458] | Chr19:50409160 [GRCh38] Chr19:50912417 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.799G>A (p.Glu267Lys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640467] | Chr19:50402494 [GRCh38] Chr19:50905751 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2510G>C (p.Cys837Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640529] | Chr19:50414936 [GRCh38] Chr19:50918193 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1889T>G (p.Leu630Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640532] | Chr19:50408898 [GRCh38] Chr19:50912155 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2288T>C (p.Phe763Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641833] | Chr19:50413779 [GRCh38] Chr19:50917036 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.888C>A (p.Val296=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641868] | Chr19:50402659 [GRCh38] Chr19:50905916 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1256C>G (p.Pro419Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641959] | Chr19:50406195 [GRCh38] Chr19:50909452 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.970+16C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642016] | Chr19:50402757 [GRCh38] Chr19:50906014 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2917A>G (p.Ile973Val) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003818232] | Chr19:50416492 [GRCh38] Chr19:50919749 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.772A>G (p.Thr258Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640507] | Chr19:50402467 [GRCh38] Chr19:50905724 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2250+19C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640511] | Chr19:50413540 [GRCh38] Chr19:50916797 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2400_2401insAA (p.Tyr801fs) | insertion | Colorectal cancer, susceptibility to, 10 [RCV003640575] | Chr19:50414825..50414826 [GRCh38] Chr19:50918082..50918083 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2035G>C (p.Asp679His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640590] | Chr19:50409547 [GRCh38] Chr19:50912804 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.945C>G (p.Phe315Leu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640497] | Chr19:50402716 [GRCh38] Chr19:50905973 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1903del (p.Asp635fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003640516] | Chr19:50409131 [GRCh38] Chr19:50912388 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.464-3C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640577] | Chr19:50401996 [GRCh38] Chr19:50905253 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2070G>A (p.Gln690=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640578] | Chr19:50409582 [GRCh38] Chr19:50912839 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-18A>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640606] | Chr19:50406965 [GRCh38] Chr19:50910222 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2629G>C (p.Asp877His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640617] | Chr19:50415502 [GRCh38] Chr19:50918759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1481T>C (p.Ile494Thr) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640658] | Chr19:50406504 [GRCh38] Chr19:50909761 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1892+4dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV003642102] | Chr19:50408904..50408905 [GRCh38] Chr19:50912161..50912162 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.123G>A (p.Met41Ile) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640635] | Chr19:50398974 [GRCh38] Chr19:50902231 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.35G>A (p.Gly12Glu) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640677] | Chr19:50398886 [GRCh38] Chr19:50902143 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.797T>G (p.Leu266Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003818423] | Chr19:50402492 [GRCh38] Chr19:50905749 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1775+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640764] | Chr19:50407423 [GRCh38] Chr19:50910680 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3094C>G (p.Arg1032Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640834] | Chr19:50417071 [GRCh38] Chr19:50920328 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.925C>T (p.Pro309Ser) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642177] | Chr19:50402696 [GRCh38] Chr19:50905953 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2007-18C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003860787] | Chr19:50409501 [GRCh38] Chr19:50912758 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1494+8C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642207] | Chr19:50406525 [GRCh38] Chr19:50909782 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-19C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003642348] | Chr19:50406964 [GRCh38] Chr19:50910221 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-19G>C | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003640756] | Chr19:50408766 [GRCh38] Chr19:50912023 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2154+10C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641153] | Chr19:50409676 [GRCh38] Chr19:50912933 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3068-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003863104] | Chr19:50417035 [GRCh38] Chr19:50920292 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.202+9T>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641222] | Chr19:50399062 [GRCh38] Chr19:50902319 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1016C>A (p.Ser339Ter) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641234] | Chr19:50403098 [GRCh38] Chr19:50906355 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1633T>C (p.Tyr545His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641203] | Chr19:50407121 [GRCh38] Chr19:50910378 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3067+11C>G | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641298] | Chr19:50416734 [GRCh38] Chr19:50919991 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3058A>T (p.Ser1020Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641316] | Chr19:50416714 [GRCh38] Chr19:50919971 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.589+20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641307] | Chr19:50402144 [GRCh38] Chr19:50905401 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3219-4G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641427] | Chr19:50417838 [GRCh38] Chr19:50921095 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.258G>C (p.Ala86=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641445] | Chr19:50399426 [GRCh38] Chr19:50902683 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2155-20C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641455] | Chr19:50413406 [GRCh38] Chr19:50916663 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2469C>A (p.Arg823=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641492] | Chr19:50414895 [GRCh38] Chr19:50918152 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2762G>A (p.Arg921His) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641429] | Chr19:50415768 [GRCh38] Chr19:50919025 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1218C>T (p.Leu406=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641432] | Chr19:50403573 [GRCh38] Chr19:50906830 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1295G>C (p.Arg432Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641482] | Chr19:50406234 [GRCh38] Chr19:50909491 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1780T>G (p.Tyr594Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641440] | Chr19:50408789 [GRCh38] Chr19:50912046 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.601T>A (p.Tyr201Asn) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641459] | Chr19:50402216 [GRCh38] Chr19:50905473 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2574G>C (p.Glu858Asp) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641475] | Chr19:50415447 [GRCh38] Chr19:50918704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.203-1G>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641491] | Chr19:50399370 [GRCh38] Chr19:50902627 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1894C>T (p.Leu632=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641613] | Chr19:50409123 [GRCh38] Chr19:50912380 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.2160C>T (p.Val720=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641488] | Chr19:50413431 [GRCh38] Chr19:50916688 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1086C>G (p.Pro362=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641546] | Chr19:50403168 [GRCh38] Chr19:50906425 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.970+17G>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641564] | Chr19:50402758 [GRCh38] Chr19:50906015 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.948T>C (p.Asp316=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641567] | Chr19:50402719 [GRCh38] Chr19:50905976 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.173T>A (p.Leu58Gln) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641582] | Chr19:50399024 [GRCh38] Chr19:50902281 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.758+5_758+6inv | inversion | Colorectal cancer, susceptibility to, 10 [RCV003641589] | Chr19:50402378..50402379 [GRCh38] Chr19:50905635..50905636 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1642A>C (p.Ser548Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641571] | Chr19:50407130 [GRCh38] Chr19:50910387 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.627C>T (p.Phe209=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641583] | Chr19:50402242 [GRCh38] Chr19:50905499 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1802del (p.Leu601fs) | deletion | Colorectal cancer, susceptibility to, 10 [RCV003641606] | Chr19:50408811 [GRCh38] Chr19:50912068 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.971-3C>A | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641645] | Chr19:50403050 [GRCh38] Chr19:50906307 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2055C>G (p.Val685=) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641663] | Chr19:50409567 [GRCh38] Chr19:50912824 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3172T>C (p.Cys1058Arg) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641674] | Chr19:50417223 [GRCh38] Chr19:50920480 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.1776-10C>T | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641739] | Chr19:50408775 [GRCh38] Chr19:50912032 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.496C>G (p.Arg166Gly) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641758] | Chr19:50402031 [GRCh38] Chr19:50905288 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2354A>C (p.His785Pro) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003641782] | Chr19:50413845 [GRCh38] Chr19:50917102 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2954-2delinsCG | indel | Colorectal cancer, susceptibility to, 10 [RCV003862451] | Chr19:50416608 [GRCh38] Chr19:50919865 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.688G>T (p.Gly230Cys) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003861562] | Chr19:50402303 [GRCh38] Chr19:50905560 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.3252G>A (p.Lys1084=) | single nucleotide variant | POLD1-related condition [RCV003962307] | Chr19:50417875 [GRCh38] Chr19:50921132 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-84_1776-83dup | duplication | POLD1-related condition [RCV003912299] | Chr19:50408690..50408691 [GRCh38] Chr19:50911947..50911948 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1776-24C>T | single nucleotide variant | POLD1-related condition [RCV003952156] | Chr19:50408761 [GRCh38] Chr19:50912018 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1495-15C>G | single nucleotide variant | POLD1-related condition [RCV003976822] | Chr19:50406968 [GRCh38] Chr19:50910225 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.3102T>G (p.Ser1034=) | single nucleotide variant | not provided [RCV003885005] | Chr19:50417079 [GRCh38] Chr19:50920336 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.228T>C (p.Asp76=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380151] | Chr19:50399396 [GRCh38] Chr19:50902653 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.1905T>G (p.Asp635Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380158] | Chr19:50409134 [GRCh38] Chr19:50912391 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_002691.4(POLD1):c.2193C>G (p.Thr731=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380160] | Chr19:50413464 [GRCh38] Chr19:50916721 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_002691.4(POLD1):c.401G>C (p.Gly134Ala) | single nucleotide variant | Colorectal cancer, susceptibility to, 10 [RCV003525395]|Hereditary cancer-predisposing syndrome [RCV003380161] | Chr19:50401862 [GRCh38] Chr19:50905119 [GRCh37] Chr19:19q13.33 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH47504 |
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RH70542 |
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GDB:583955 |
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RH93516 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1096 | 523 | 874 | 171 | 1268 | 95 | 2184 | 315 | 1036 | 149 | 1263 | 1555 | 89 | 329 | 1202 | 3 | ||
Low | 1343 | 2466 | 851 | 452 | 682 | 369 | 2173 | 1879 | 2695 | 270 | 197 | 58 | 86 | 1 | 875 | 1586 | 3 | 2 |
Below cutoff | 2 | 1 | 1 | 1 | 3 | 3 |
RefSeq Transcripts | NG_033800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001256849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001308632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_002691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_046402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005259008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011527038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017026881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017026882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047438946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047438947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047438948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047438949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047438950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054321239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008485165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_935835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA236879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB209560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC008655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC020909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY129569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM193218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD101690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ234348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L38719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M80397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M81735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000440232 ⟹ ENSP00000406046 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593407 ⟹ ENSP00000469115 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593887 ⟹ ENSP00000472607 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593981 ⟹ ENSP00000469308 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000595904 ⟹ ENSP00000472445 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000596221 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000596648 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000597963 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000599857 ⟹ ENSP00000473052 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000600746 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000600859 ⟹ ENSP00000470726 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000601098 ⟹ ENSP00000472600 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000613923 ⟹ ENSP00000481858 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000643407 ⟹ ENSP00000496078 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000644560 ⟹ ENSP00000495618 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000687454 ⟹ ENSP00000510052 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001256849 ⟹ NP_001243778 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001308632 ⟹ NP_001295561 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_002691 ⟹ NP_002682 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
RefSeq Acc Id: | NR_046402 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005259008 ⟹ XP_005259065 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011527038 ⟹ XP_011525340 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017026882 ⟹ XP_016882371 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_047438946 ⟹ XP_047294902 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047438947 ⟹ XP_047294903 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047438948 ⟹ XP_047294904 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047438949 ⟹ XP_047294905 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047438950 ⟹ XP_047294906 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321232 ⟹ XP_054177207 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321233 ⟹ XP_054177208 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321234 ⟹ XP_054177209 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321235 ⟹ XP_054177210 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321236 ⟹ XP_054177211 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321237 ⟹ XP_054177212 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321238 ⟹ XP_054177213 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054321239 ⟹ XP_054177214 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008485165 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_935835 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001243778 | (Get FASTA) | NCBI Sequence Viewer |
NP_001295561 | (Get FASTA) | NCBI Sequence Viewer | |
NP_002682 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005259065 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011525340 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016882371 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047294902 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047294903 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047294904 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047294905 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047294906 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177207 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177208 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177209 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177210 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177211 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177212 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177213 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054177214 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA35768 | (Get FASTA) | NCBI Sequence Viewer |
AAA58439 | (Get FASTA) | NCBI Sequence Viewer | |
AAH08800 | (Get FASTA) | NCBI Sequence Viewer | |
AAM76971 | (Get FASTA) | NCBI Sequence Viewer | |
ABB29977 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92797 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71856 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71857 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000406046 | ||
ENSP00000406046.1 | |||
ENSP00000469115.1 | |||
ENSP00000469308.1 | |||
ENSP00000470726.1 | |||
ENSP00000472445 | |||
ENSP00000472445.1 | |||
ENSP00000472600 | |||
ENSP00000472600.2 | |||
ENSP00000472607 | |||
ENSP00000472607.2 | |||
ENSP00000473052 | |||
ENSP00000473052.1 | |||
ENSP00000481858 | |||
ENSP00000481858.2 | |||
ENSP00000495618.2 | |||
ENSP00000496078.1 | |||
ENSP00000510052 | |||
ENSP00000510052.1 | |||
GenBank Protein | P28340 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002682 ⟸ NM_002691 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001243778 ⟸ NM_001256849 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005259065 ⟸ XM_005259008 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011525340 ⟸ XM_011527038 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001295561 ⟸ NM_001308632 |
- Peptide Label: | isoform 2 |
- UniProtKB: | M0R2B7 (UniProtKB/TrEMBL), Q308M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016882371 ⟸ XM_017026882 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000472445 ⟸ ENST00000595904 |
RefSeq Acc Id: | ENSP00000473052 ⟸ ENST00000599857 |
RefSeq Acc Id: | ENSP00000406046 ⟸ ENST00000440232 |
RefSeq Acc Id: | ENSP00000481858 ⟸ ENST00000613923 |
RefSeq Acc Id: | ENSP00000470726 ⟸ ENST00000600859 |
RefSeq Acc Id: | ENSP00000472600 ⟸ ENST00000601098 |
RefSeq Acc Id: | ENSP00000496078 ⟸ ENST00000643407 |
RefSeq Acc Id: | ENSP00000495618 ⟸ ENST00000644560 |
RefSeq Acc Id: | ENSP00000469308 ⟸ ENST00000593981 |
RefSeq Acc Id: | ENSP00000469115 ⟸ ENST00000593407 |
RefSeq Acc Id: | ENSP00000472607 ⟸ ENST00000593887 |
RefSeq Acc Id: | ENSP00000510052 ⟸ ENST00000687454 |
RefSeq Acc Id: | XP_047294903 ⟸ XM_047438947 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047294905 ⟸ XM_047438949 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047294902 ⟸ XM_047438946 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047294904 ⟸ XM_047438948 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047294906 ⟸ XM_047438950 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177208 ⟸ XM_054321233 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177213 ⟸ XM_054321238 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177207 ⟸ XM_054321232 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177211 ⟸ XM_054321236 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177212 ⟸ XM_054321237 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177210 ⟸ XM_054321235 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177209 ⟸ XM_054321234 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NER3 (UniProtKB/Swiss-Prot), P28340 (UniProtKB/Swiss-Prot), Q96H98 (UniProtKB/Swiss-Prot), Q308M6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054177214 ⟸ XM_054321239 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087WYJ2 (UniProtKB/TrEMBL), A0A2R8Y705 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P28340-F1-model_v2 | AlphaFold | P28340 | 1-1107 | view protein structure |
RGD ID: | 13205255 | ||||||||
Promoter ID: | EPDNEW_H26208 | ||||||||
Type: | initiation region | ||||||||
Name: | POLD1_1 | ||||||||
Description: | DNA polymerase delta 1, catalytic subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H26209 EPDNEW_H26210 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13205257 | ||||||||
Promoter ID: | EPDNEW_H26209 | ||||||||
Type: | initiation region | ||||||||
Name: | POLD1_2 | ||||||||
Description: | DNA polymerase delta 1, catalytic subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H26208 EPDNEW_H26210 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13205259 | ||||||||
Promoter ID: | EPDNEW_H26210 | ||||||||
Type: | initiation region | ||||||||
Name: | POLD1_3 | ||||||||
Description: | DNA polymerase delta 1, catalytic subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H26208 EPDNEW_H26209 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6795916 | ||||||||
Promoter ID: | HG_KWN:30613 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000376930, ENST00000391817, NM_002691, UC002PSC.2, UC010ENX.1 | ||||||||
Position: |
|
RGD ID: | 6811712 | ||||||||
Promoter ID: | HG_ACW:42350 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | POLD1.HAPR07, POLD1.IAPR07, POLD1.JAPR07 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9175 | AgrOrtholog |
COSMIC | POLD1 | COSMIC |
Ensembl Genes | ENSG00000062822 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000440232 | ENTREZGENE |
ENST00000440232.7 | UniProtKB/Swiss-Prot | |
ENST00000593407.5 | UniProtKB/TrEMBL | |
ENST00000593887 | UniProtKB/TrEMBL | |
ENST00000593887.2 | UniProtKB/Swiss-Prot | |
ENST00000593981.1 | UniProtKB/TrEMBL | |
ENST00000595904 | ENTREZGENE | |
ENST00000595904.6 | UniProtKB/TrEMBL | |
ENST00000599857 | ENTREZGENE | |
ENST00000599857.7 | UniProtKB/Swiss-Prot | |
ENST00000600859 | ENTREZGENE | |
ENST00000600859.5 | UniProtKB/TrEMBL | |
ENST00000601098 | ENTREZGENE | |
ENST00000601098.6 | UniProtKB/Swiss-Prot | |
ENST00000613923 | ENTREZGENE | |
ENST00000613923.6 | UniProtKB/TrEMBL | |
ENST00000643407.1 | UniProtKB/TrEMBL | |
ENST00000644560.2 | UniProtKB/TrEMBL | |
ENST00000687454 | ENTREZGENE | |
ENST00000687454.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.132.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.420.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.90.1600.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
6.10.140.1540 | UniProtKB/TrEMBL | |
DNA Polymerase, chain B, domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Helix hairpin bin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000062822 | GTEx |
HGNC ID | HGNC:9175 | ENTREZGENE |
Human Proteome Map | POLD1 | Human Proteome Map |
InterPro | DNA-dir_DNA_pol_B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DNA-dir_DNA_pol_B_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA-dir_DNA_pol_B_exonuc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA-dir_DNA_pol_B_multi_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA/RNA_pol_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA_pol_B_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA_pol_palm_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNaseH-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNaseH_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf-C4pol | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5424 | UniProtKB/Swiss-Prot |
NCBI Gene | 5424 | ENTREZGENE |
OMIM | 174761 | OMIM |
PANTHER | DNA POLYMERASE CATALYTIC SUBUNIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DNA POLYMERASE DELTA CATALYTIC SUBUNIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DNA_pol_B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DNA_pol_B_exo1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
zf-C4pol | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA33496 | PharmGKB |
PRINTS | DNAPOLB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | DNA_POLYMERASE_B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | POLBc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53098 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF56672 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087WYJ2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A2R8Y705 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A2R8Y7K6_HUMAN | UniProtKB/TrEMBL | |
DPOD1_HUMAN | UniProtKB/Swiss-Prot | |
M0QXE6_HUMAN | UniProtKB/TrEMBL | |
M0QXQ2_HUMAN | UniProtKB/TrEMBL | |
M0QZR8_HUMAN | UniProtKB/TrEMBL | |
M0R2B7 | ENTREZGENE, UniProtKB/TrEMBL | |
M0R2J2_HUMAN | UniProtKB/TrEMBL | |
P28340 | ENTREZGENE | |
Q308M6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q59FA0_HUMAN | UniProtKB/TrEMBL | |
Q8NER3 | ENTREZGENE | |
Q96H98 | ENTREZGENE | |
UniProt Secondary | Q8NER3 | UniProtKB/Swiss-Prot |
Q96H98 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-08-02 | POLD1 | DNA polymerase delta 1, catalytic subunit | POLD1 | DAN polymerase delta 1, catalytic subunit | Symbol and/or name change | 5135510 | APPROVED |
2016-07-19 | POLD1 | DAN polymerase delta 1, catalytic subunit | POLD1 | polymerase (DNA) delta 1, catalytic subunit | Symbol and/or name change | 5135510 | APPROVED |
2016-03-07 | POLD1 | polymerase (DNA) delta 1, catalytic subunit | POLD1 | polymerase (DNA directed), delta 1, catalytic subunit | Symbol and/or name change | 5135510 | APPROVED |
2012-06-05 | POLD1 | polymerase (DNA directed), delta 1, catalytic subunit | POLD1 | polymerase (DNA directed), delta 1, catalytic subunit 125kDa | Symbol and/or name change | 5135510 | APPROVED |
2012-03-06 | POLD1 | polymerase (DNA directed), delta 1, catalytic subunit 125kDa | POLD1 | polymerase (DNA directed), delta 1, catalytic subunit 125kDa | Symbol and/or name change | 5135510 | APPROVED |