"Mendelics"[submitter] AND "POLD1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380428	NM_001256849.1(POLD1):c.-51G>A	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant)	Colorectal cancer, susceptibility to, 10 +2 more	GBenign/Likely benign
Select item 1686136	NM_002691.4(POLD1):c.19C>T (p.Pro7Ser)	POLD1 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 245862	NM_002691.4(POLD1):c.80A>T (p.Asp27Val)	POLD1 (D27V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 407954	NM_002691.4(POLD1):c.132G>A (p.Met44Ile)	POLD1 (M44I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 584986	NM_002691.4(POLD1):c.189G>T (p.Glu63Asp)	POLD1 (E63D)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 408049	NM_002691.4(POLD1):c.197C>G (p.Ala66Gly)	POLD1 (A66G)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 225288	NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	POLD1 (V70F)	Single nucleotide variant (missense variant +1 more)	Carcinoma of colon +6 more	GConflicting classifications of pathogenicity
Select item 239277	NM_002691.4(POLD1):c.224T>C (p.Ile75Thr)	POLD1 (I75T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 469249	NM_002691.4(POLD1):c.230C>G (p.Pro77Arg)	POLD1 (P77R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1685016	NM_002691.4(POLD1):c.278C>T (p.Pro93Leu)	POLD1 (P93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 484366	NM_002691.4(POLD1):c.317-5C>T	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 408038	NM_002691.4(POLD1):c.327G>C (p.Gln109His)	POLD1 (Q109H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 239345	NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)	POLD1 (S118F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 414783	NM_002691.4(POLD1):c.432C>T (p.Phe144=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 239348	NM_002691.4(POLD1):c.455C>T (p.Ala152Val)	POLD1 (A152V)	Single nucleotide variant (missense variant +1 more)	POLD1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 239352	NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)	POLD1 (R174Q)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1685017	NM_002691.4(POLD1):c.536G>T (p.Gly179Val)	POLD1 (G179V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 537072	NM_002691.4(POLD1):c.565G>T (p.Ala189Ser)	POLD1 (A189S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 408100	NM_002691.4(POLD1):c.613G>A (p.Gly205Ser)	POLD1 (G205S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 484339	NM_002691.4(POLD1):c.657C>T (p.Leu219=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 220850	NM_002691.4(POLD1):c.674G>A (p.Arg225His)	POLD1 (R225H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 220847	NM_002691.4(POLD1):c.714G>A (p.Thr238=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 221166	NM_002691.4(POLD1):c.773C>T (p.Thr258Met)	POLD1 (T258M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 239373	NM_002691.4(POLD1):c.883G>A (p.Val295Met)	POLD1 (V295M)	Single nucleotide variant (missense variant +1 more)	POLD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 393105	NM_002691.4(POLD1):c.900G>A (p.Pro300=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GBenign/Likely benign
Select item 221136	NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)	POLD1 (G321S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239221	NM_002691.4(POLD1):c.1092G>C (p.Leu364=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GBenign/Likely benign
Select item 469173	NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile)	POLD1 (S370I)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 220754	NM_002691.4(POLD1):c.1138-8A>G	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 239225	NM_002691.4(POLD1):c.1182C>T (p.Thr394=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
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 239233	NM_002691.4(POLD1):c.1383+8C>T	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 643765	NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter)	POLD1 (Q498*)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GUncertain significance
Select item 382177	NM_002691.4(POLD1):c.1596C>T (p.Ala532=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 220890	NM_002691.4(POLD1):c.1620C>T (p.Gly540=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign
Select item 386100	NM_002691.4(POLD1):c.1635C>T (p.Tyr545=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 803575	NM_002691.4(POLD1):c.1686+43G>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 584987	NM_002691.4(POLD1):c.1687-2A>G	POLD1	Single nucleotide variant (splice acceptor variant)	Familial colorectal cancer	GUncertain significance
Select item 220886	NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)	POLD1 (A599T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 239265	NM_002691.4(POLD1):c.2007-5C>T	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 218562	NM_002691.4(POLD1):c.2007-4G>A	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 239269	NM_002691.4(POLD1):c.2052G>C (p.Gln684His)	POLD1 (Q684H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 239273	NM_002691.4(POLD1):c.2155-6C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +1 more	GBenign/Likely benign
Select item 414752	NM_002691.4(POLD1):c.2155-5G>A	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 414768	NM_002691.4(POLD1):c.2157C>T (p.Ser719=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	POLD1-related disorder +4 more	GLikely benign
Select item 221038	NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)	POLD1 (V759I +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 239287	NM_002691.4(POLD1):c.2337G>A (p.Ala779=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 408012	NM_002691.4(POLD1):c.2388+5G>A	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 408091	NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly)	POLD1 (R843G +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 803576	NM_002691.4(POLD1):c.2565-12G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 239303	NM_002691.4(POLD1):c.2577C>T (p.Gly859=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 239306	NM_002691.4(POLD1):c.2717+8G>A	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 584988	NM_002691.4(POLD1):c.2874G>A (p.Leu958=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Familial colorectal cancer +1 more	GConflicting classifications of pathogenicity
Select item 220823	NM_002691.4(POLD1):c.2967G>A (p.Thr989=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 422465	NM_002691.4(POLD1):c.2987C>T (p.Thr996Met)	POLD1 (T1022M +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +4 more	GUncertain significance
Select item 408069	NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr)	POLD1 (A1006T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 239329	NM_002691.4(POLD1):c.3054G>A (p.Val1018=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 414753	NM_002691.4(POLD1):c.3067+11del	POLD1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 408116	NM_002691.4(POLD1):c.3073G>A (p.Val1025Met)	POLD1 (V1025M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 516980	NM_002691.4(POLD1):c.3120+6A>G	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 803577	NM_002691.4(POLD1):c.3121-33G>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 408119	NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys)	POLD1 (R1053C +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 407995	NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn)	POLD1 (D1091N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 239341	NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu)	POLD1 (R1098L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 408019	NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr)	POLD1 (A1106T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity

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Items: 65