"PreventionGenetics, part of Exact Sciences"[submitter] AND "POLD1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 822534	NM_002691.4(POLD1):c.2T>C (p.Met1Thr)	POLD1 (M1T)	Single nucleotide variant (missense variant +2 more)	POLD1-related disorder +3 more	GUncertain significance
Select item 239235	NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)	POLD1 (R5W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 239344	NM_002691.4(POLD1):c.33C>T (p.Pro11=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 408109	NM_002691.4(POLD1):c.49C>T (p.Arg17Trp)	POLD1 (R17W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 414765	NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)	POLD1 (R19C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 221055	NM_002691.4(POLD1):c.56G>A (p.Arg19His)	POLD1 (R19H)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
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 560824	NM_002691.4(POLD1):c.84A>G (p.Ala28=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 221163	NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)	POLD1 (R30W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 386792	NM_002691.4(POLD1):c.102C>T (p.Phe34=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 239245	NM_002691.4(POLD1):c.156G>A (p.Glu52=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GLikely benign
Select item 414799	NM_002691.4(POLD1):c.162G>A (p.Glu54=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	POLD1-related disorder +3 more	GLikely benign
Select item 820000	NM_002691.4(POLD1):c.175C>T (p.Gln59Ter)	POLD1 (Q59*)	Single nucleotide variant (nonsense +1 more)	POLD1-related disorder +2 more	GUncertain significance
Select item 469219	NM_002691.4(POLD1):c.177G>A (p.Gln59=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 239267	NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)	POLD1 (G68E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 239270	NM_002691.4(POLD1):c.208G>A (p.Val70Ile)	POLD1 (V70I)	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)	Colorectal cancer, susceptibility to, 10 +6 more	GConflicting classifications of pathogenicity
Select item 380633	NM_002691.4(POLD1):c.234C>G (p.Arg78=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 560820	NM_002691.4(POLD1):c.241C>T (p.Arg81Trp)	POLD1 (R81W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 239294	NM_002691.4(POLD1):c.245C>T (p.Pro82Leu)	POLD1 (P82L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GUncertain significance
Select item 408120	NM_002691.4(POLD1):c.301A>T (p.Ile101Phe)	POLD1 (I101F)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 560821	NM_002691.4(POLD1):c.317-10dup	POLD1	Duplication (intron variant)	not provided	GLikely benign
Select item 380219	NM_002691.4(POLD1):c.324G>A (p.Ala108=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 220913	NM_002691.4(POLD1):c.324G>T (p.Ala108=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 380220	NM_002691.4(POLD1):c.356G>A (p.Arg119His)	POLD1 (R119H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign
Select item 220970	NM_002691.4(POLD1):c.371T>C (p.Val124Ala)	POLD1 (V124A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 221130	NM_002691.4(POLD1):c.378C>T (p.Arg126=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 220691	NM_002691.4(POLD1):c.384C>T (p.Phe128=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GLikely benign
Select item 797226	NM_002691.4(POLD1):c.402G>T (p.Gly134=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GLikely benign
Select item 549724	NM_002691.4(POLD1):c.429C>T (p.Gly143=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	POLD1-related disorder +2 more	GLikely benign
Select item 221138	NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)	POLD1 (A145T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +5 more	GBenign/Likely benign
Select item 414801	NM_002691.4(POLD1):c.438C>G (p.Pro146=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Colorectal cancer, susceptibility to, 10 +5 more	GConflicting classifications of pathogenicity
Select item 371890	NM_002691.4(POLD1):c.463+8G>T	POLD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 380235	NM_002691.4(POLD1):c.463+9C>T	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 380634	NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)	POLD1 (S173N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 239352	NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)	POLD1 (R174Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 387178	NM_002691.4(POLD1):c.522G>A (p.Arg174=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 469360	NM_002691.4(POLD1):c.530G>A (p.Arg177His)	POLD1 (R177H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 420703	NM_002691.4(POLD1):c.532G>C (p.Gly178Arg)	POLD1 (G178R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 390915	NM_002691.4(POLD1):c.558C>T (p.Ala186=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 239355	NM_002691.4(POLD1):c.574C>T (p.Leu192=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 2633947	NM_002691.4(POLD1):c.577T>G (p.Cys193Gly)	POLD1 (C193G)	Single nucleotide variant (missense variant +1 more)	POLD1-related disorder	GUncertain significance
Select item 239356	NM_002691.4(POLD1):c.581C>G (p.Ser194Cys)	POLD1 (S194C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 469368	NM_002691.4(POLD1):c.584G>A (p.Arg195Gln)	POLD1 (R195Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 1142829	NM_002691.4(POLD1):c.589+10C>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +1 more	GLikely benign
Select item 469369	NM_002691.4(POLD1):c.590-10C>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GLikely benign
Select item 469370	NM_002691.4(POLD1):c.606C>T (p.His202=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign
Select item 239361	NM_002691.4(POLD1):c.624G>A (p.Pro208=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign
Select item 239364	NM_002691.4(POLD1):c.651G>A (p.Pro217=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 239365	NM_002691.4(POLD1):c.653G>A (p.Arg218His)	POLD1 (R218H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 484339	NM_002691.4(POLD1):c.657C>T (p.Leu219=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GLikely benign
Select item 385309	NM_002691.4(POLD1):c.663C>A (p.Ala221=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 381937	NM_002691.4(POLD1):c.666G>A (p.Pro222=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 848278	NM_002691.4(POLD1):c.687G>C (p.Gln229His)	POLD1 (Q229H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 386810	NM_002691.4(POLD1):c.758+4C>T	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 239367	NM_002691.4(POLD1):c.758+5G>A	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2418076	NM_002691.4(POLD1):c.759-7C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +1 more	GLikely benign
Select item 221166	NM_002691.4(POLD1):c.773C>T (p.Thr258Met)	POLD1 (T258M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 221152	NM_002691.4(POLD1):c.778A>G (p.Ile260Val)	POLD1 (I260V)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 514765	NM_002691.4(POLD1):c.780C>T (p.Ile260=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 381833	NM_002691.4(POLD1):c.783C>T (p.Val261=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 239368	NM_002691.4(POLD1):c.784G>A (p.Gly262Ser)	POLD1 (G262S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 380227	NM_002691.4(POLD1):c.810T>C (p.Ala270=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 484336	NM_002691.4(POLD1):c.835_837del (p.Glu279del)	POLD1 (E279del)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 408070	NM_002691.4(POLD1):c.841-5C>T	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 484341	NM_002691.4(POLD1):c.846G>A (p.Thr282=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 220697	NM_002691.4(POLD1):c.849G>T (p.Gln283His)	POLD1 (Q283H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 383834	NM_002691.4(POLD1):c.864G>A (p.Ala288=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 239371	NM_002691.4(POLD1):c.866A>G (p.Asp289Gly)	POLD1 (D289G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 239373	NM_002691.4(POLD1):c.883G>A (p.Val295Met)	POLD1 (V295M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 715228	NM_002691.4(POLD1):c.897A>G (p.Pro299=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 239375	NM_002691.4(POLD1):c.900G>C (p.Pro300=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 469394	NM_002691.4(POLD1):c.917G>A (p.Arg306His)	POLD1 (R306H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GUncertain significance
Select item 381620	NM_002691.4(POLD1):c.945C>T (p.Phe315=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 389360	NM_002691.4(POLD1):c.951C>T (p.Ile317=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GLikely benign
Select item 391501	NM_002691.4(POLD1):c.957C>T (p.Cys319=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 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)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 386771	NM_002691.4(POLD1):c.970+10C>T	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 246155	NM_002691.4(POLD1):c.971-19G>A	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 380635	NM_002691.4(POLD1):c.971-12C>T	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 239378	NM_002691.4(POLD1):c.971-4G>A	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 239216	NM_002691.4(POLD1):c.1017G>T (p.Ser339=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 469169	NM_002691.4(POLD1):c.1027C>T (p.Arg343Cys)	POLD1 (R343C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 408032	NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys)	POLD1 (R352C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 408039	NM_002691.4(POLD1):c.1055G>A (p.Arg352His)	POLD1 (R352H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 239218	NM_002691.4(POLD1):c.1061C>T (p.Ala354Val)	POLD1 (A354V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 239219	NM_002691.4(POLD1):c.1062G>A (p.Ala354=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign
Select item 239222	NM_002691.4(POLD1):c.1137+9C>T	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 371963	NM_002691.4(POLD1):c.1137+10G>A	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
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 380706	NM_002691.4(POLD1):c.1173C>T (p.Asp391=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
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 408086	NM_002691.4(POLD1):c.1234A>G (p.Thr412Ala)	POLD1 (T412A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 513524	NM_002691.4(POLD1):c.1243-15G>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GBenign/Likely benign
Select item 408055	NM_002691.4(POLD1):c.1243-11CTC[2]	POLD1	Microsatellite (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220965	NM_002691.4(POLD1):c.1275C>T (p.Ala425=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 372012	NM_002691.4(POLD1):c.1383+9G>C	POLD1	Single nucleotide variant (intron variant)	POLD1-related disorder +2 more	GLikely benign
Select item 1602703	NM_002691.4(POLD1):c.1384-17CCCA[4]	POLD1	Microsatellite (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GLikely benign
Select item 239236	NM_002691.4(POLD1):c.1419G>A (p.Thr473=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign

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