POLD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 670616	NM_002691.3(POLD1):c.-292C>G	LOC130064982, POLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1200783	NC_000019.10:g.50384125G>A	LOC130064983, POLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1190137	NC_000019.10:g.50384211C>G	LOC130064983, POLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1292475	NC_000019.10:g.50384216G>A	LOC130064983, POLD1	Single nucleotide variant	not provided	GBenign
Select item 507762	NM_001256849.1(POLD1):c.-51G>C	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380428	NM_001256849.1(POLD1):c.-51G>A	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 423128	NM_002691.4(POLD1):c.-44_-36delinsACACGGCGA	LOC130064984, POLD1	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 382308	NM_002691.4(POLD1):c.-32A>G	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384531	NM_002691.4(POLD1):c.-31G>A	POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 420522	NM_002691.4(POLD1):c.-23C>T	POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 484422	NM_002691.4(POLD1):c.-5G>C	POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 421051	NM_002691.4(POLD1):c.-2+1G>C	POLD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 508949	NM_002691.4(POLD1):c.-2+13dup	POLD1	Duplication (intron variant)	not specified	GLikely benign
Select item 391232	NM_002691.4(POLD1):c.-2+12G>A	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509944	NM_002691.4(POLD1):c.-2+16A>G	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 511404	NM_002691.4(POLD1):c.-2+19G>A	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 677917	NM_002691.4(POLD1):c.-2+47G>C	POLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200359	NM_002691.4(POLD1):c.-2+76A>G	POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302817	NM_002691.4(POLD1):c.-1-260_-1-259dup	POLD1	Duplication (intron variant)	not provided	GBenign
Select item 1221567	NM_002691.4(POLD1):c.-1-259dup	POLD1	Duplication (intron variant)	not provided	GBenign
Select item 1214218	NM_002691.4(POLD1):c.-1-256A>G	POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229647	NM_002691.4(POLD1):c.-1-215G>A	POLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1697843	NM_002691.4(POLD1):c.-1-44T>C	POLD1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1697844	NM_002691.4(POLD1):c.-1-29C>A	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2853073	NM_002691.4(POLD1):c.-1-25_16del	POLD1	Deletion (splice acceptor variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1343081	NM_002691.4(POLD1):c.-1-12C>G	POLD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1050496	NM_002691.4(POLD1):c.-1-12C>T	POLD1	Single nucleotide variant (intron variant)	Carcinoma of colon	GUncertain significance
Select item 647458	NC_000019.10:g.(?_50398842)_(50399494_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 583694	NC_000019.9:g.(?_50902099)_(50906864_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 583662	NC_000019.9:g.(?_50902099)_(50921214_?)dup	LOC130064985, LOC130064986 +1 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 391008	NM_002691.4(POLD1):c.-1-7C>T	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 583863	NC_000019.10:g.(?_50398846)_(50403603_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 537179	NC_000019.10:g.(?_50398846)_(50406523_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 469167	NC_000019.10:g.(?_50398846)_(50399490_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 382246	NM_002691.4(POLD1):c.-1-5A>T	POLD1	Single nucleotide variant (splice acceptor variant +1 more)	not specified	GLikely benign
Select item 387895	NM_002691.4(POLD1):c.-1-4G>C	POLD1	Single nucleotide variant (splice acceptor variant +1 more)	not specified	GLikely benign
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 484360	NM_002691.4(POLD1):c.-1G>A	POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 417420	NC_000019.9:g.(?_50902108)_(50902741_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1469315	NM_002691.4(POLD1):c.1A>C (p.Met1Leu)	POLD1 (M1L)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 845531	NM_002691.4(POLD1):c.1A>G (p.Met1Val)	POLD1 (M1V)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
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 371955	NM_002691.4(POLD1):c.2T>A (p.Met1Lys)	POLD1 (M1K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2016643	NM_002691.4(POLD1):c.4G>T (p.Asp2Tyr)	POLD1 (D2Y)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1039963	NM_002691.4(POLD1):c.4G>C (p.Asp2His)	POLD1 (D2H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 1750976	NM_002691.4(POLD1):c.5A>G (p.Asp2Gly)	POLD1 (D2G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 863206	NM_002691.4(POLD1):c.8G>A (p.Gly3Asp)	POLD1 (G3D)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 408029	NM_002691.4(POLD1):c.9C>T (p.Gly3=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GLikely benign
Select item 2848943	NM_002691.4(POLD1):c.10A>G (p.Lys4Glu)	POLD1 (K4E)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 848509	NM_002691.4(POLD1):c.10A>C (p.Lys4Gln)	POLD1 (K4Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1478506	NM_002691.4(POLD1):c.11A>C (p.Lys4Thr)	POLD1 (K4T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1492196	NM_002691.4(POLD1):c.14GGC[1] (p.Arg6del)	POLD1 (R6del)	Microsatellite (inframe_deletion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 239235	NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)	POLD1 (R5W)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 408051	NM_002691.4(POLD1):c.14G>A (p.Arg5Gln)	POLD1 (R5Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 619894	NM_002691.4(POLD1):c.15G>A (p.Arg5=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 389551	NM_002691.4(POLD1):c.15G>T (p.Arg5=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GLikely benign
Select item 537104	NM_002691.4(POLD1):c.16C>T (p.Arg6Trp)	POLD1 (R6W)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 239256	NM_002691.4(POLD1):c.17G>C (p.Arg6Pro)	POLD1 (R6P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 226047	NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)	POLD1 (R6Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
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 841189	NM_002691.4(POLD1):c.20C>A (p.Pro7Gln)	POLD1 (P7Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 756889	NM_002691.4(POLD1):c.21A>G (p.Pro7=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2817586	NM_002691.4(POLD1):c.22G>A (p.Gly8Ser)	POLD1 (G8S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2197943	NM_002691.4(POLD1):c.23G>C (p.Gly8Ala)	POLD1 (G8A)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1903260	NM_002691.4(POLD1):c.23G>A (p.Gly8Asp)	POLD1 (G8D)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 387186	NM_002691.4(POLD1):c.24C>T (p.Gly8=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GLikely benign
Select item 2902906	NM_002691.4(POLD1):c.27_32del (p.7PG[2])	POLD1	Deletion (inframe_deletion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2830395	NM_002691.4(POLD1):c.25C>T (p.Pro9Ser)	POLD1 (P9S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 537098	NM_002691.4(POLD1):c.26C>T (p.Pro9Leu)	POLD1 (P9L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 1796157	NM_002691.4(POLD1):c.27A>C (p.Pro9=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 484367	NM_002691.4(POLD1):c.27A>G (p.Pro9=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GLikely benign
Select item 972395	NM_002691.4(POLD1):c.28G>A (p.Gly10Arg)	POLD1 (G10R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2059467	NM_002691.4(POLD1):c.29G>T (p.Gly10Val)	POLD1 (G10V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance OUncertain significance
Select item 3308306	NM_002691.4(POLD1):c.30G>A (p.Gly10=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1450338	NM_002691.4(POLD1):c.31C>T (p.Pro11Ser)	POLD1 (P11S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3369402	NM_002691.4(POLD1):c.32C>G (p.Pro11Arg)	POLD1 (P11R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 239344	NM_002691.4(POLD1):c.33C>T (p.Pro11=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 407998	NM_002691.4(POLD1):c.34G>A (p.Gly12Arg)	POLD1 (G12R)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2870624	NM_002691.4(POLD1):c.35G>A (p.Gly12Glu)	POLD1 (G12E)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3000332	NM_002691.4(POLD1):c.36G>T (p.Gly12=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 1605958	NM_002691.4(POLD1):c.36G>C (p.Gly12=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 761379	NM_002691.4(POLD1):c.36G>A (p.Gly12=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 1051972	NM_002691.4(POLD1):c.37G>C (p.Val13Leu)	POLD1 (V13L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 407974	NM_002691.4(POLD1):c.37G>T (p.Val13Leu)	POLD1 (V13L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 407967	NM_002691.4(POLD1):c.37G>A (p.Val13Met)	POLD1 (V13M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 2131923	NM_002691.4(POLD1):c.39G>T (p.Val13=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3222740	NM_002691.4(POLD1):c.40C>G (p.Pro14Ala)	POLD1 (P14A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1055019	NM_002691.4(POLD1):c.40C>T (p.Pro14Ser)	POLD1 (P14S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 1362448	NM_002691.4(POLD1):c.41C>A (p.Pro14His)	POLD1 (P14H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2731060	NM_002691.4(POLD1):c.43C>T (p.Pro15Ser)	POLD1 (P15S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 847274	NM_002691.4(POLD1):c.43_44insTTG (p.Pro15delinsLeuAla)	POLD1	Insertion (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 657069	NM_002691.4(POLD1):c.44C>T (p.Pro15Leu)	POLD1 (P15L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 469354	NM_002691.4(POLD1):c.45A>G (p.Pro15=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GLikely benign
Select item 496661	NM_002691.4(POLD1):c.46A>G (p.Lys16Glu)	POLD1 (K16E)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance

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