ClinVar for Gene (Select 5424) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373676	NM_002691.4(POLD1):c.2701G>T (p.Val901Leu)	POLD1 (V901L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372686	NM_002691.4(POLD1):c.1907del (p.Gln636fs)	POLD1 (Q636fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3369822	NM_002691.4(POLD1):c.3121G>A (p.Val1041Ile)	POLD1 (V1041I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3368106	NM_002691.4(POLD1):c.469G>C (p.Gly157Arg)	POLD1 (G157R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365288	NM_002691.4(POLD1):c.623del (p.Pro208fs)	POLD1 (P208fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3364183	NM_002691.4(POLD1):c.2463_2467dup (p.Arg823fs)	POLD1 (R823fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3364064	NM_002691.4(POLD1):c.247A>G (p.Thr83Ala)	POLD1 (T83A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363872	NM_002691.4(POLD1):c.1227G>T (p.Arg409=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3363480	NM_002691.4(POLD1):c.1333G>T (p.Asp445Tyr)	POLD1 (D445Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337484	NM_002691.4(POLD1):c.3092C>G (p.Pro1031Arg)	POLD1 (P1031R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3308318	NM_002691.4(POLD1):c.2399C>T (p.Pro800Leu)	POLD1 (P800L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308317	NM_002691.4(POLD1):c.1171G>T (p.Asp391Tyr)	POLD1 (D391Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308315	NM_002691.4(POLD1):c.2979G>C (p.Thr993=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308314	NM_002691.4(POLD1):c.268C>A (p.Gln90Lys)	POLD1 (Q90K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308313	NM_002691.4(POLD1):c.2274C>G (p.Ser758=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308312	NM_002691.4(POLD1):c.2273C>A (p.Ser758Tyr)	POLD1 (S784Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308311	NM_002691.4(POLD1):c.1479C>G (p.Ile493Met)	POLD1 (I493M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308310	NM_002691.4(POLD1):c.2295G>A (p.Val765=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308309	NM_002691.4(POLD1):c.2481G>A (p.Lys827=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308308	NM_002691.4(POLD1):c.72T>A (p.Asp24Glu)	POLD1 (D24E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308307	NM_002691.4(POLD1):c.734A>C (p.Glu245Ala)	POLD1 (E245A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain 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 3308305	NM_002691.4(POLD1):c.1161C>T (p.Ile387=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308304	NM_002691.4(POLD1):c.1856C>T (p.Thr619Ile)	POLD1 (T619I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308303	NM_002691.4(POLD1):c.2859C>T (p.Asp953=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308302	NM_002691.4(POLD1):c.1271T>C (p.Val424Ala)	POLD1 (V424A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308299	NM_002691.4(POLD1):c.2565A>G (p.Arg855=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308298	NM_002691.4(POLD1):c.3056T>A (p.Leu1019His)	POLD1 (L1045H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308297	NM_002691.4(POLD1):c.1286C>G (p.Ser429Cys)	POLD1 (S429C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308296	NM_002691.4(POLD1):c.1363G>C (p.Val455Leu)	POLD1 (V455L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308295	NM_002691.4(POLD1):c.399G>T (p.Glu133Asp)	POLD1 (E133D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308294	NM_002691.4(POLD1):c.1755T>A (p.Thr585=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308293	NM_002691.4(POLD1):c.1896G>T (p.Leu632=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308291	NM_002691.4(POLD1):c.1140C>T (p.Ala380=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308290	NM_002691.4(POLD1):c.2899C>G (p.Leu967Val)	POLD1 (L967V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308289	NM_002691.4(POLD1):c.3276G>C (p.Gln1092His)	POLD1 (Q1092H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308288	NM_002691.4(POLD1):c.896C>T (p.Pro299Leu)	POLD1 (P299L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308287	NM_002691.4(POLD1):c.1133T>G (p.Leu378Arg)	POLD1 (L378R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308285	NM_002691.4(POLD1):c.1100A>G (p.Lys367Arg)	POLD1 (K367R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308284	NM_002691.4(POLD1):c.1348A>T (p.Ser450Cys)	POLD1 (S450C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308283	NM_002691.4(POLD1):c.170A>G (p.Glu57Gly)	POLD1 (E57G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308282	NM_002691.4(POLD1):c.2397C>G (p.Phe799Leu)	POLD1 (F799L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308280	NM_002691.4(POLD1):c.1738G>T (p.Asp580Tyr)	POLD1 (D580Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308279	NM_002691.4(POLD1):c.760T>G (p.Phe254Val)	POLD1 (F254V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308278	NM_002691.4(POLD1):c.1728G>C (p.Glu576Asp)	POLD1 (E576D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308277	NM_002691.4(POLD1):c.3101C>A (p.Ser1034Tyr)	POLD1 (S1034Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308275	NM_002691.4(POLD1):c.2905A>G (p.Ile969Val)	POLD1 (I969V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308274	NM_002691.4(POLD1):c.118C>G (p.Leu40Val)	POLD1 (L40V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308273	NM_002691.4(POLD1):c.998C>T (p.Pro333Leu)	POLD1 (P333L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308266	NM_002691.4(POLD1):c.2623C>G (p.Arg875Gly)	POLD1 (R901G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256171	NM_002691.4(POLD1):c.3121-27G>A	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256170	NM_002691.4(POLD1):c.2953+34G>T	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256169	NM_002691.4(POLD1):c.2926G>T (p.Glu976Ter)	POLD1 (E1002* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3256168	NM_002691.4(POLD1):c.2718-38A>G	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256167	NM_002691.4(POLD1):c.1783G>C (p.Asp595His)	POLD1 (D595H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256166	NM_002691.4(POLD1):c.1495-38A>T	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256165	NM_002691.4(POLD1):c.1243-33C>T	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256164	NM_002691.4(POLD1):c.971-24C>A	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256163	NM_002691.4(POLD1):c.617C>A (p.Pro206His)	POLD1 (P206H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256162	NM_002691.4(POLD1):c.316+27C>T	POLD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3252638	NM_002691.4(POLD1):c.91C>T (p.Pro31Ser)	POLD1 (P31S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3248477	NC_000019.9:g.(?_50903077)_(50910587_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248476	NC_000019.9:g.(?_50919077)_(50920308_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248475	NC_000019.9:g.(?_50905025)_(50906864_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248474	NC_000019.9:g.(?_50713623)_(50902761_?)dup	KCNC3, MYH14 +3 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248473	NC_000019.9:g.(?_50887648)_(50921204_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248471	NC_000019.9:g.(?_50904019)_(50905638_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248470	NC_000019.9:g.(?_50905015)_(50906874_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248469	NC_000019.9:g.(?_50902109)_(50912943_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3240168	NM_002691.4(POLD1):c.1514GCC[4] (p.Arg507_Leu508insArg)	POLD1	Microsatellite (inframe_insertion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3240167	NM_002691.4(POLD1):c.1606G>A (p.Ala536Thr)	POLD1 (A536T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3222754	NM_002691.4(POLD1):c.939C>T (p.Leu313=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222753	NM_002691.4(POLD1):c.932G>C (p.Arg311Pro)	POLD1 (R311P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222752	NM_002691.4(POLD1):c.875G>T (p.Trp292Leu)	POLD1 (W292L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222751	NM_002691.4(POLD1):c.863C>G (p.Ala288Gly)	POLD1 (A288G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222750	NM_002691.4(POLD1):c.776A>T (p.Asp259Val)	POLD1 (D259V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222749	NM_002691.4(POLD1):c.776A>G (p.Asp259Gly)	POLD1 (D259G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222748	NM_002691.4(POLD1):c.749T>C (p.Phe250Ser)	POLD1 (F250S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222747	NM_002691.4(POLD1):c.724G>T (p.Ala242Ser)	POLD1 (A242S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222746	NM_002691.4(POLD1):c.696T>C (p.Arg232=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222745	NM_002691.4(POLD1):c.677T>A (p.Leu226His)	POLD1 (L226H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222741	NM_002691.4(POLD1):c.512C>G (p.Ala171Gly)	POLD1 (A171G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 3222739	NM_002691.4(POLD1):c.350C>T (p.Pro117Leu)	POLD1 (P117L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222738	NM_002691.4(POLD1):c.3312T>C (p.Pro1104=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222737	NM_002691.4(POLD1):c.3299G>A (p.Gly1100Glu)	POLD1 (G1100E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222735	NM_002691.4(POLD1):c.3222G>A (p.Arg1074=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222734	NM_002691.4(POLD1):c.3212G>A (p.Cys1071Tyr)	POLD1 (C1071Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222733	NM_002691.4(POLD1):c.3164G>C (p.Trp1055Ser)	POLD1 (W1055S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222732	NM_002691.4(POLD1):c.3162C>T (p.Leu1054=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222731	NM_002691.4(POLD1):c.3145G>A (p.Glu1049Lys)	POLD1 (E1049K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222730	NM_002691.4(POLD1):c.3071C>G (p.Ala1024Gly)	POLD1 (A1024G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222729	NM_002691.4(POLD1):c.3070G>T (p.Ala1024Ser)	POLD1 (A1024S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222728	NM_002691.4(POLD1):c.2980G>A (p.Val994Met)	POLD1 (V1020M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222727	NM_002691.4(POLD1):c.2876A>T (p.Glu959Val)	POLD1 (E959V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222726	NM_002691.4(POLD1):c.2783G>A (p.Ser928Asn)	POLD1 (S928N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222725	NM_002691.4(POLD1):c.2747C>T (p.Pro916Leu)	POLD1 (P916L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222724	NM_002691.4(POLD1):c.2575G>T (p.Gly859Cys)	POLD1 (G859C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222723	NM_002691.4(POLD1):c.2533A>G (p.Thr845Ala)	POLD1 (T845A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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