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

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548776	NM_002691.4(POLD1):c.-1-2A>C	POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 371955	NM_002691.4(POLD1):c.2T>A (p.Met1Lys)	POLD1 (M1K)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 226047	NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)	POLD1 (R6Q)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 414765	NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)	POLD1 (R19C)	Single nucleotide variant (missense variant +1 more)	not provided +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)	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)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 439249	NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del)	POLD1	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 484408	NM_002691.4(POLD1):c.151CAGGAG[1] (p.51QE[1])	POLD1	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 225288	NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	POLD1 (V70F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239294	NM_002691.4(POLD1):c.245C>T (p.Pro82Leu)	POLD1 (P82L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 469286	NM_002691.4(POLD1):c.269A>G (p.Gln90Arg)	POLD1 (Q90R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 393077	NM_002691.4(POLD1):c.317-8C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 486089	NM_002691.4(POLD1):c.317-2A>G	POLD1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 469346	NM_002691.4(POLD1):c.358G>C (p.Gly120Arg)	POLD1 (G120R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 221053	NM_002691.4(POLD1):c.463+8_463+9delinsTT	POLD1	Indel (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 239349	NM_002691.4(POLD1):c.469G>A (p.Gly157Arg)	POLD1 (G157R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 239357	NM_002691.4(POLD1):c.583C>T (p.Arg195Ter)	POLD1 (R195*)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 469383	NM_002691.4(POLD1):c.758G>A (p.Arg253Gln)	POLD1 (R253Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 385595	NM_002691.4(POLD1):c.758+8C>G	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 484336	NM_002691.4(POLD1):c.835_837del (p.Glu279del)	POLD1 (E279del)	Deletion (inframe_deletion +1 more)	POLD1-related disorder +4 more	GUncertain significance
Select item 414791	NM_002691.4(POLD1):c.840+10_840+19del	POLD1	Deletion (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 220697	NM_002691.4(POLD1):c.849G>T (p.Gln283His)	POLD1 (Q283H)	Single nucleotide variant (missense 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)	Colorectal cancer, susceptibility to, 10 +6 more	GConflicting classifications of pathogenicity
Select item 371922	NM_002691.4(POLD1):c.970+12G>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	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 40045	NM_002691.4(POLD1):c.980C>T (p.Pro327Leu)	POLD1 (P327L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
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 371880	NM_002691.4(POLD1):c.1137+16C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 548900	NM_002691.4(POLD1):c.1138-14G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	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 548725	NM_002691.4(POLD1):c.1171dup (p.Asp391fs)	POLD1 (D391fs)	Duplication (frameshift variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 486071	NM_002691.4(POLD1):c.1225C>T (p.Arg409Trp)	POLD1 (R409W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 371903	NM_002691.4(POLD1):c.1242+18G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 469193	NM_002691.4(POLD1):c.1371G>T (p.Met457Ile)	POLD1 (M457I)	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)	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)	not specified +2 more	GLikely benign
Select item 420229	NM_002691.4(POLD1):c.1384-13C>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 144003	NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	POLD1 (L474P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GPathogenic/Likely pathogenic
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 239239	NM_002691.4(POLD1):c.1494+5C>T	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 381774	NM_002691.4(POLD1):c.1495-14G>A	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 408102	NM_002691.4(POLD1):c.1514G>A (p.Arg505His)	POLD1 (R505H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 371999	NM_002691.4(POLD1):c.1686+11G>A	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 372021	NM_002691.4(POLD1):c.1686+15C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 548905	NM_002691.4(POLD1):c.1687-7C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 548732	NM_002691.4(POLD1):c.1773dup (p.Gly592fs)	POLD1 (G592fs)	Duplication (frameshift variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 371938	NM_002691.4(POLD1):c.1775+7C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 548844	NM_002691.4(POLD1):c.1776-83del	POLD1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 372005	NM_002691.4(POLD1):c.1776-19G>A	POLD1 (R612H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 371965	NM_002691.4(POLD1):c.1776-18C>T	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 408030	NM_002691.4(POLD1):c.1786G>A (p.Val596Ile)	POLD1 (V596I +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 371994	NM_002691.4(POLD1):c.1892+11C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385350	NM_002691.4(POLD1):c.2006+16C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 380643	NM_002691.4(POLD1):c.2007-15C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 386692	NM_002691.4(POLD1):c.2007-14G>A	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 218562	NM_002691.4(POLD1):c.2007-4G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +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)	Colorectal cancer, susceptibility to, 10 +5 more	GConflicting classifications of pathogenicity
Select item 239272	NM_002691.4(POLD1):c.2154+4G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 548842	NM_002691.4(POLD1):c.2155-15T>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 372071	NM_002691.4(POLD1):c.2155-8C>T	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 239273	NM_002691.4(POLD1):c.2155-6C>T	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 371937	NM_002691.4(POLD1):c.2250+16C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 239279	NM_002691.4(POLD1):c.2251-8G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GBenign/Likely benign
Select item 414773	NM_002691.4(POLD1):c.2251-4G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
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 408118	NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)	POLD1 (A810V +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 469261	NM_002691.4(POLD1):c.2433C>T (p.Gly811=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 407984	NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del)	POLD1 (S842del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220865	NM_002691.4(POLD1):c.2546G>A (p.Arg849His)	POLD1 (R849H +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 387731	NM_002691.4(POLD1):c.2564+19C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 371997	NM_002691.4(POLD1):c.2565-17G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 548823	NM_002691.4(POLD1):c.2565-15C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 548836	NM_002691.4(POLD1):c.2565-13C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +1 more	GConflicting classifications of pathogenicity
Select item 239308	NM_002691.4(POLD1):c.2717+9C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 372003	NM_002691.4(POLD1):c.2717+14C>T	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 371953	NM_002691.4(POLD1):c.2717+15G>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 239309	NM_002691.4(POLD1):c.2718-5C>T	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 386591	NM_002691.4(POLD1):c.2718-4G>A	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 408064	NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr)	POLD1 (A961T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 469303	NM_002691.4(POLD1):c.2821-4G>A	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 221052	NM_002691.4(POLD1):c.2862G>C (p.Thr954=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign
Select item 548791	NM_002691.4(POLD1):c.2887_2888insGGCCTGG (p.Ala963fs)	POLD1 (A963fs +1 more)	Insertion (frameshift variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 548861	NM_002691.4(POLD1):c.2953+12_2953+14delinsTC	POLD1	Indel (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 414753	NM_002691.4(POLD1):c.3067+11del	POLD1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 371996	NM_002691.4(POLD1):c.3068-14C>T	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 382307	NM_002691.4(POLD1):c.3068-13C>T	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 548738	NM_002691.4(POLD1):c.3068-2A>G	POLD1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 548882	NM_002691.4(POLD1):c.3074_3076dup (p.Val1025_Cys1026insLeu)	POLD1	Duplication (inframe_insertion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 372047	NM_002691.4(POLD1):c.3120+12G>A	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 372064	NM_002691.4(POLD1):c.3121-14G>A	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 391074	NM_002691.4(POLD1):c.3121-9C>T	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 220966	NM_002691.4(POLD1):c.3218+9_3218+10inv	POLD1	Inversion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 371933	NM_002691.4(POLD1):c.3218+10A>G	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 371904	NM_002691.4(POLD1):c.3218+17G>A	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 246135	NM_002691.4(POLD1):c.3219-19C>A	POLD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 408095	NM_002691.4(POLD1):c.3305del (p.Pro1102fs)	POLD1 (P1102fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 548846	NM_002691.4(POLD1):c.*54C>A	POLD1	Single nucleotide variant (3 prime UTR variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign

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Items: 99