POLE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 1255331	NM_006231.4(POLE):c.*90A>G	POLE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2692188	NM_006231.4(POLE):c.*27C>T	POLE	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1697372	NM_006231.4(POLE):c.*23T>G	POLE	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 380640	NM_006231.4(POLE):c.*18G>T	POLE	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1204253	NM_006231.4(POLE):c.*16G>A	POLE	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 584280	NC_000012.11:g.(?_133201273)_(133263911_?)dup	LOC130009266, POLE	Duplication	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 583937	NC_000012.12:g.(?_132624687)_(132626327_?)del	POLE	Deletion	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 473430	NC_000012.11:g.(?_133201277)_(133263907_?)dup	LOC130009266, POLE	Duplication	not provided	GUncertain significance
Select item 484526	NM_006231.4(POLE):c.*4G>T	POLE	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1536238	NM_006231.4(POLE):c.6858T>C (p.His2286=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2625231	NM_006231.4(POLE):c.6857A>G (p.His2286Arg)	POLE (H2286R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1755810	NM_006231.4(POLE):c.6854G>C (p.Gly2285Ala)	POLE (G2285A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 405873	NM_006231.4(POLE):c.6854G>A (p.Gly2285Asp)	POLE (G2285D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955741	NM_006231.4(POLE):c.6853G>A (p.Gly2285Ser)	POLE (G2285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649156	NM_006231.4(POLE):c.6853G>T (p.Gly2285Cys)	POLE (G2285C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2562915	NM_006231.4(POLE):c.6852G>A (p.Leu2284=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 473817	NM_006231.4(POLE):c.6851T>A (p.Leu2284Gln)	POLE (L2284Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755798	NM_006231.4(POLE):c.6850C>T (p.Leu2284=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 579941	NM_006231.4(POLE):c.6850C>A (p.Leu2284Met)	POLE (L2284M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530671	NM_006231.4(POLE):c.6849G>A (p.Gln2283=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 960971	NM_006231.4(POLE):c.6849G>T (p.Gln2283His)	POLE (Q2283H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 486092	NM_006231.4(POLE):c.6847C>T (p.Gln2283Ter)	POLE (Q2283*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 473816	NM_006231.4(POLE):c.6847C>G (p.Gln2283Glu)	POLE (Q2283E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555735	NM_006231.4(POLE):c.6846A>G (p.Pro2282=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 540828	NM_006231.4(POLE):c.6846A>C (p.Pro2282=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 971399	NM_006231.4(POLE):c.6845C>G (p.Pro2282Arg)	POLE (P2282R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 540658	NM_006231.4(POLE):c.6845C>T (p.Pro2282Leu)	POLE (P2282L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481826	NM_006231.4(POLE):c.6844C>T (p.Pro2282Ser)	POLE (P2282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540786	NM_006231.4(POLE):c.6844C>A (p.Pro2282Thr)	POLE (P2282T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1101552	NM_006231.4(POLE):c.6843C>T (p.Asn2281=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 801270	NM_006231.4(POLE):c.6843C>G (p.Asn2281Lys)	POLE (N2281K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858863	NM_006231.4(POLE):c.6842A>T (p.Asn2281Ile)	POLE (N2281I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 656167	NM_006231.4(POLE):c.6842A>C (p.Asn2281Thr)	POLE (N2281T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2625240	NM_006231.4(POLE):c.6841A>G (p.Asn2281Asp)	POLE (N2281D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2004646	NM_006231.4(POLE):c.6840_6841del (p.Asn2281fs)	POLE (N2281fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1099691	NM_006231.4(POLE):c.6840G>A (p.Lys2280=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518985	NM_006231.4(POLE):c.6839A>G (p.Lys2280Arg)	POLE (K2280R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 1473086	NM_006231.4(POLE):c.6838A>G (p.Lys2280Glu)	POLE (K2280E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 484479	NM_006231.4(POLE):c.6837G>A (p.Gln2279=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 941176	NM_006231.4(POLE):c.6836A>G (p.Gln2279Arg)	POLE (Q2279R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 473815	NM_006231.4(POLE):c.6835C>T (p.Gln2279Ter)	POLE (Q2279*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2805967	NM_006231.4(POLE):c.6834G>A (p.Leu2278=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1755695	NM_006231.4(POLE):c.6832C>A (p.Leu2278Met)	POLE (L2278M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1160924	NM_006231.4(POLE):c.6831G>A (p.Leu2277=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 246130	NM_006231.4(POLE):c.6831G>T (p.Leu2277=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1427003	NM_006231.4(POLE):c.6828G>T (p.Trp2276Cys)	POLE (W2276C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199908	NM_006231.4(POLE):c.6827G>A (p.Trp2276Ter)	POLE (W2276*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2012295	NM_006231.4(POLE):c.6826T>G (p.Trp2276Gly)	POLE (W2276G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755658	NM_006231.4(POLE):c.6825G>A (p.Glu2275=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2120141	NM_006231.4(POLE):c.6823G>A (p.Glu2275Lys)	POLE (E2275K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2561542	NM_006231.4(POLE):c.6822G>A (p.Leu2274=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1755646	NM_006231.4(POLE):c.6822G>C (p.Leu2274=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1755634	NM_006231.4(POLE):c.6820C>T (p.Leu2274=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 240622	NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)	POLE (L2274V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3225508	NM_006231.4(POLE):c.6819C>T (p.Thr2273=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 439280	NM_006231.4(POLE):c.6818C>T (p.Thr2273Ile)	POLE (T2273I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 240621	NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	POLE (T2273S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1146301	NM_006231.4(POLE):c.6816G>A (p.Glu2272=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1718837	NM_006231.4(POLE):c.6814G>A (p.Glu2272Lys)	POLE (E2272K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1472300	NM_006231.4(POLE):c.6814G>C (p.Glu2272Gln)	POLE (E2272Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1755588	NM_006231.4(POLE):c.6813G>A (p.Leu2271=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 970528	NM_006231.4(POLE):c.6812T>C (p.Leu2271Pro)	POLE (L2271P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1641017	NM_006231.4(POLE):c.6811C>T (p.Leu2271=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 844817	NM_006231.4(POLE):c.6811C>G (p.Leu2271Val)	POLE (L2271V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 484472	NM_006231.4(POLE):c.6810C>T (p.Leu2270=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2002152	NM_006231.4(POLE):c.6808C>T (p.Leu2270Phe)	POLE (L2270F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755547	NM_006231.4(POLE):c.6807C>T (p.Tyr2269=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1755541	NM_006231.4(POLE):c.6805T>C (p.Tyr2269His)	POLE (Y2269H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 413550	NM_006231.4(POLE):c.6804G>A (p.Ser2268=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1904991	NM_006231.4(POLE):c.6803C>G (p.Ser2268Trp)	POLE (S2268W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 405583	NM_006231.4(POLE):c.6803C>T (p.Ser2268Leu)	POLE (S2268L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2713001	NM_006231.4(POLE):c.6801G>A (p.Met2267Ile)	POLE (M2267I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540657	NM_006231.4(POLE):c.6801G>C (p.Met2267Ile)	POLE (M2267I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3308366	NM_006231.4(POLE):c.6797G>T (p.Gly2266Val)	POLE (G2266V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225507	NM_006231.4(POLE):c.6797G>A (p.Gly2266Asp)	POLE (G2266D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 240620	NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser)	POLE (G2266S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 240619	NM_006231.4(POLE):c.6795C>T (p.Tyr2265=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1982157	NM_006231.4(POLE):c.6794A>G (p.Tyr2265Cys)	POLE (Y2265C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376833	NM_006231.4(POLE):c.6793T>C (p.Tyr2265His)	POLE (Y2265H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 652918	NM_006231.4(POLE):c.6792C>G (p.His2264Gln)	POLE (H2264Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 970238	NM_006231.4(POLE):c.6790C>T (p.His2264Tyr)	POLE (H2264Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 473814	NM_006231.4(POLE):c.6790C>A (p.His2264Asn)	POLE (H2264N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714335	NM_006231.4(POLE):c.6789G>C (p.Gln2263His)	POLE (Q2263H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741749	NM_006231.4(POLE):c.6789G>A (p.Gln2263=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 405734	NM_006231.4(POLE):c.6787C>T (p.Gln2263Ter)	POLE (Q2263*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1755409	NM_006231.4(POLE):c.6786C>G (p.Ala2262=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 753482	NM_006231.4(POLE):c.6786C>T (p.Ala2262=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 838453	NM_006231.4(POLE):c.6785C>T (p.Ala2262Val)	POLE (A2262V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 950372	NM_006231.4(POLE):c.6784G>A (p.Ala2262Thr)	POLE (A2262T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861516	NM_006231.4(POLE):c.6783T>G (p.Ile2261Met)	POLE (I2261M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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