| 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 |
