"Fulgent Genetics, Fulgent Genetics"[submitter] AND "POLD1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 407998	NM_002691.4(POLD1):c.34G>A (p.Gly12Arg)	POLD1 (G12R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 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)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely 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 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 225288	NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	POLD1 (V70F)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 408088	NM_002691.4(POLD1):c.223A>G (p.Ile75Val)	POLD1 (I75V)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 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 specified +4 more	GUncertain significance
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 407960	NM_002691.4(POLD1):c.343C>T (p.Pro115Ser)	POLD1 (P115S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 239345	NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)	POLD1 (S118F)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 575159	NM_002691.4(POLD1):c.364G>A (p.Val122Met)	POLD1 (V122M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 221116	NM_002691.4(POLD1):c.376C>T (p.Arg126Cys)	POLD1 (R126C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 221138	NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)	POLD1 (A145T)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 221171	NM_002691.4(POLD1):c.496C>T (p.Arg166Trp)	POLD1 (R166W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 372001	NM_002691.4(POLD1):c.590-2A>G	POLD1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 570525	NM_002691.4(POLD1):c.652C>T (p.Arg218Cys)	POLD1 (R218C)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GUncertain significance
Select item 246444	NM_002691.4(POLD1):c.713C>T (p.Thr238Met)	POLD1 (T238M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
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 381833	NM_002691.4(POLD1):c.783C>T (p.Val261=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +4 more	GBenign/Likely benign
Select item 239370	NM_002691.4(POLD1):c.820G>A (p.Ala274Thr)	POLD1 (A274T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
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 389301	NM_002691.4(POLD1):c.933C>T (p.Arg311=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely 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 421222	NM_002691.4(POLD1):c.965G>A (p.Arg322His)	POLD1 (R322H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 239224	NM_002691.4(POLD1):c.1157G>A (p.Arg386His)	POLD1 (R386H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 484376	NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)	POLD1 (I431V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 407957	NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly)	POLD1 (R432G)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 239230	NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)	POLD1 (T441M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 407953	NM_002691.4(POLD1):c.1363G>A (p.Val455Met)	POLD1 (V455M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +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)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 486073	NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys)	POLD1 (R506C)	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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 747672	NM_002691.4(POLD1):c.1681C>A (p.Arg561=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GLikely benign
Select item 469213	NM_002691.4(POLD1):c.1717G>T (p.Val573Leu)	POLD1 (V573L)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GUncertain significance
Select item 383417	NM_002691.4(POLD1):c.1785C>T (p.Asp595=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +4 more	GBenign/Likely benign
Select item 407972	NM_002691.4(POLD1):c.1811C>A (p.Ser604Tyr)	POLD1 (S604Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GUncertain significance
Select item 469225	NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp)	POLD1 (R623W +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 537065	NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala)	POLD1 (T666A +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 407993	NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn)	POLD1 (D644N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 407992	NM_002691.4(POLD1):c.2142G>A (p.Leu714=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 573996	NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu)	POLD1 (Q733E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 239281	NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser)	POLD1 (G764S +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 407966	NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys)	POLD1 (R849C +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +2 more	GUncertain significance
Select item 220865	NM_002691.4(POLD1):c.2546G>A (p.Arg849His)	POLD1 (R849H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 407990	NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter)	POLD1 (R855* +1 more)	Single nucleotide variant (nonsense +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 469296	NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu)	POLD1 (D920E +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 239314	NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg)	POLD1 (T954R +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GUncertain significance
Select item 537107	NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp)	POLD1 (R1011W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 537052	NM_002691.4(POLD1):c.2959dup	POLD1	Duplication (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 469322	NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr)	POLD1 (I1039T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 421647	NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met)	POLD1 (T1056M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 408063	NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg)	POLD1 (G1126R +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +2 more	GUncertain significance

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Items: 53