"Baylor Genetics"[submitter] AND "POLD1"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239286	NM_002691.4(POLD1):c.232C>T (p.Arg78Cys)	POLD1 (R78C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 408113	NM_002691.4(POLD1):c.931C>T (p.Arg311Cys)	POLD1 (R311C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 407951	NM_002691.4(POLD1):c.932G>A (p.Arg311His)	POLD1 (R311H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 246387	NM_002691.4(POLD1):c.934G>A (p.Val312Met)	POLD1 (V312M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 469395	NM_002691.4(POLD1):c.940A>G (p.Ser314Gly)	POLD1 (S314G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 469398	NM_002691.4(POLD1):c.958G>A (p.Ala320Thr)	POLD1 (A320T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 421222	NM_002691.4(POLD1):c.965G>A (p.Arg322His)	POLD1 (R322H)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 1767752	NM_002691.4(POLD1):c.967A>C (p.Lys323Gln)	POLD1 (K323Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 408036	NM_002691.4(POLD1):c.968A>G (p.Lys323Arg)	POLD1 (K323R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 407965	NM_002691.4(POLD1):c.973A>G (p.Ile325Val)	POLD1 (I325V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 408013	NM_002691.4(POLD1):c.992G>A (p.Arg331Gln)	POLD1 (R331Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 408022	NM_002691.4(POLD1):c.1008G>T (p.Gln336His)	POLD1 (Q336H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 2677930	NM_002691.4(POLD1):c.1025T>C (p.Leu342Pro)	POLD1 (L342P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 469169	NM_002691.4(POLD1):c.1027C>T (p.Arg343Cys)	POLD1 (R343C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 246395	NM_002691.4(POLD1):c.1028G>A (p.Arg343His)	POLD1 (R343H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 239217	NM_002691.4(POLD1):c.1028G>C (p.Arg343Pro)	POLD1 (R343P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 408032	NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys)	POLD1 (R352C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 469170	NM_002691.4(POLD1):c.1055G>T (p.Arg352Leu)	POLD1 (R352L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1782683	NM_002691.4(POLD1):c.1069C>A (p.Leu357Met)	POLD1 (L357M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 408004	NM_002691.4(POLD1):c.1070T>G (p.Leu357Arg)	POLD1 (L357R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 822127	NM_002691.4(POLD1):c.1082C>T (p.Ala361Val)	POLD1 (A361V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 486059	NM_002691.4(POLD1):c.1091T>C (p.Leu364Pro)	POLD1 (L364P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GConflicting classifications of pathogenicity
Select item 484383	NM_002691.4(POLD1):c.1107G>C (p.Gln369His)	POLD1 (Q369H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 408097	NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys)	POLD1 (E372K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 486062	NM_002691.4(POLD1):c.1117A>G (p.Lys373Glu)	POLD1 (K373E)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 469174	NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg)	POLD1 (K373R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 946160	NM_002691.4(POLD1):c.1123G>A (p.Glu375Lys)	POLD1 (E375K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 484432	NM_002691.4(POLD1):c.1127A>G (p.Asp376Gly)	POLD1 (D376G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 469177	NM_002691.4(POLD1):c.1136A>G (p.Gln379Arg)	POLD1 (Q379R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 239224	NM_002691.4(POLD1):c.1157G>A (p.Arg386His)	POLD1 (R386H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GUncertain significance
Select item 408053	NM_002691.4(POLD1):c.1174G>A (p.Val392Met)	POLD1 (V392M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 469182	NM_002691.4(POLD1):c.1178T>C (p.Ile393Thr)	POLD1 (I393T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 484402	NM_002691.4(POLD1):c.1183G>A (p.Gly395Ser)	POLD1 (G395S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 239226	NM_002691.4(POLD1):c.1194C>G (p.Ile398Met)	POLD1 (I398M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 469183	NM_002691.4(POLD1):c.1204G>A (p.Asp402Asn)	POLD1 (D402N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 469185	NM_002691.4(POLD1):c.1211C>T (p.Pro404Leu)	POLD1 (P404L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692701	NM_002691.4(POLD1):c.1216C>G (p.Leu406Val)	POLD1 (L406V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 662791	NM_002691.4(POLD1):c.1225C>G (p.Arg409Gly)	POLD1 (R409G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 486071	NM_002691.4(POLD1):c.1225C>T (p.Arg409Trp)	POLD1 (R409W)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 239227	NM_002691.4(POLD1):c.1226G>A (p.Arg409Gln)	POLD1 (R409Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 537046	NM_002691.4(POLD1):c.1233G>C (p.Gln411His)	POLD1 (Q411H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2677928	NM_002691.4(POLD1):c.1253T>G (p.Phe418Cys)	POLD1 (F418C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2893044	NM_002691.4(POLD1):c.1256C>G (p.Pro419Arg)	POLD1 (P419R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 574024	NM_002691.4(POLD1):c.1267C>T (p.Arg423Cys)	POLD1 (R423C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 469189	NM_002691.4(POLD1):c.1268G>A (p.Arg423His)	POLD1 (R423H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 818752	NM_002691.4(POLD1):c.1270G>A (p.Val424Met)	POLD1 (V424M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 408073	NM_002691.4(POLD1):c.1276G>A (p.Gly426Ser)	POLD1 (G426S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 484349	NM_002691.4(POLD1):c.1289A>G (p.Asn430Ser)	POLD1 (N430S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 407957	NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly)	POLD1 (R432G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 239228	NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln)	POLD1 (R432Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 408089	NM_002691.4(POLD1):c.1301C>G (p.Ser434Cys)	POLD1 (S434C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 537066	NM_002691.4(POLD1):c.1317G>T (p.Lys439Asn)	POLD1 (K439N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2560441	NM_002691.4(POLD1):c.1327C>T (p.Arg443Trp)	POLD1 (R443W)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 486061	NM_002691.4(POLD1):c.1331G>A (p.Arg444Gln)	POLD1 (R444Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 469191	NM_002691.4(POLD1):c.1360C>T (p.Arg454Cys)	POLD1 (R454C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 469192	NM_002691.4(POLD1):c.1361G>A (p.Arg454His)	POLD1 (R454H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 407953	NM_002691.4(POLD1):c.1363G>A (p.Val455Met)	POLD1 (V455M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 239232	NM_002691.4(POLD1):c.1366C>G (p.Gln456Glu)	POLD1 (Q456E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 469193	NM_002691.4(POLD1):c.1371G>T (p.Met457Ile)	POLD1 (M457I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 648501	NM_002691.4(POLD1):c.1387C>A (p.Leu463Met)	POLD1 (L463M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 408065	NM_002691.4(POLD1):c.1403A>G (p.Lys468Arg)	POLD1 (K468R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 2677933	NM_002691.4(POLD1):c.1408C>T (p.Arg470Cys)	POLD1 (R470C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 144003	NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	POLD1 (L474P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 572956	NM_002691.4(POLD1):c.1429G>T (p.Val477Leu)	POLD1 (V477L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 537029	NM_002691.4(POLD1):c.1429G>A (p.Val477Met)	POLD1 (V477M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 40044	NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	POLD1 (S478N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GPathogenic/Likely pathogenic
Select item 2677927	NM_002691.4(POLD1):c.1454A>G (p.Gln485Arg)	POLD1 (Q485R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 407945	NM_002691.4(POLD1):c.1456A>G (p.Lys486Glu)	POLD1 (K486E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 484378	NM_002691.4(POLD1):c.1463A>G (p.Asp488Gly)	POLD1 (D488G)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 408015	NM_002691.4(POLD1):c.1465G>A (p.Val489Met)	POLD1 (V489M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 864611	NM_002691.4(POLD1):c.1474A>G (p.Ser492Gly)	POLD1 (S492G)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 2677932	NM_002691.4(POLD1):c.1476C>A (p.Ser492Arg)	POLD1 (S492R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1773567	NM_002691.4(POLD1):c.1478TCA[1] (p.Ile494del)	POLD1 (I494del)	Microsatellite (inframe_deletion +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 664056	NM_002691.4(POLD1):c.1486G>A (p.Asp496Asn)	POLD1 (D496N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3240168	NM_002691.4(POLD1):c.1514GCC[4] (p.Arg507_Leu508insArg)	POLD1	Microsatellite (inframe_insertion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2677931	NM_002691.4(POLD1):c.1511C>A (p.Thr504Asn)	POLD1 (T504N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 408102	NM_002691.4(POLD1):c.1514G>A (p.Arg505His)	POLD1 (R505H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 486073	NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys)	POLD1 (R506C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 239242	NM_002691.4(POLD1):c.1517G>A (p.Arg506His)	POLD1 (R506H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 421052	NM_002691.4(POLD1):c.1552C>A (p.Leu518Met)	POLD1 (L518M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 469205	NM_002691.4(POLD1):c.1561C>T (p.Arg521Trp)	POLD1 (R521W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 469207	NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln)	POLD1 (R525Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 239246	NM_002691.4(POLD1):c.1597G>A (p.Val533Met)	POLD1 (V533M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 484416	NM_002691.4(POLD1):c.1605G>C (p.Met535Ile)	POLD1 (M535I)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 3240167	NM_002691.4(POLD1):c.1606G>A (p.Ala536Thr)	POLD1 (A536T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 408003	NM_002691.4(POLD1):c.1607C>T (p.Ala536Val)	POLD1 (A536V)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 1024787	NM_002691.4(POLD1):c.1621G>C (p.Val541Leu)	POLD1 (V541L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 1341327	NM_002691.4(POLD1):c.1711C>G (p.Pro571Ala)	POLD1 (P571A)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome	GUncertain significance
Select item 414802	NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)	POLD1 (E729K +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 239285	NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)	POLD1 (R776Q +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 834404	NM_002691.4(POLD1):c.3001G>A (p.Gly1001Ser)	POLD1 (G1001S +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 91