"Ambry Genetics"[submitter] AND "POLE"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 3724

<< First< Prev

Page of 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 484526	NM_006231.4(POLE):c.*4G>T	POLE	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 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 1755798	NM_006231.4(POLE):c.6850C>T (p.Leu2284=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 486092	NM_006231.4(POLE):c.6847C>T (p.Gln2283Ter)	POLE (Q2283*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 540828	NM_006231.4(POLE):c.6846A>C (p.Pro2282=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 540786	NM_006231.4(POLE):c.6844C>A (p.Pro2282Thr)	POLE (P2282T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 484479	NM_006231.4(POLE):c.6837G>A (p.Gln2279=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 941176	NM_006231.4(POLE):c.6836A>G (p.Gln2279Arg)	POLE (Q2279R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 246130	NM_006231.4(POLE):c.6831G>T (p.Leu2277=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 240621	NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	POLE (T2273S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1146301	NM_006231.4(POLE):c.6816G>A (p.Glu2272=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1718837	NM_006231.4(POLE):c.6814G>A (p.Glu2272Lys)	POLE (E2272K)	Single nucleotide variant (missense variant)	not provided +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)	not provided +1 more	GUncertain significance
Select item 484472	NM_006231.4(POLE):c.6810C>T (p.Leu2270=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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)	not provided +1 more	GUncertain significance
Select item 413550	NM_006231.4(POLE):c.6804G>A (p.Ser2268=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1904991	NM_006231.4(POLE):c.6803C>G (p.Ser2268Trp)	POLE (S2268W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 405583	NM_006231.4(POLE):c.6803C>T (p.Ser2268Leu)	POLE (S2268L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	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 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 652918	NM_006231.4(POLE):c.6792C>G (p.His2264Gln)	POLE (H2264Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 970238	NM_006231.4(POLE):c.6790C>T (p.His2264Tyr)	POLE (H2264Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1755370	NM_006231.4(POLE):c.6778A>G (p.Asn2260Asp)	POLE (N2260D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1152132	NM_006231.4(POLE):c.6777G>A (p.Arg2259=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 484476	NM_006231.4(POLE):c.6777G>C (p.Arg2259=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 413591	NM_006231.4(POLE):c.6777G>T (p.Arg2259=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 2496844	NM_006231.4(POLE):c.6771A>G (p.Ile2257Met)	POLE (I2257M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1026133	NM_006231.4(POLE):c.6769A>G (p.Ile2257Val)	POLE (I2257V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 571754	NM_006231.4(POLE):c.6765C>G (p.Ile2255Met)	POLE (I2255M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 413581	NM_006231.4(POLE):c.6765C>T (p.Ile2255=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign/Likely benign
Select item 221175	NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)	POLE (I2255F)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +5 more	GBenign/Likely benign
Select item 1108997	NM_006231.4(POLE):c.6762G>A (p.Gln2254=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1755264	NM_006231.4(POLE):c.6759A>G (p.Glu2253=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 655425	NM_006231.4(POLE):c.6757G>A (p.Glu2253Lys)	POLE (E2253K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 548550	NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln)	POLE (E2253Q)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 1755253	NM_006231.4(POLE):c.6755T>A (p.Met2252Lys)	POLE (M2252K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 998708	NM_006231.4(POLE):c.6755T>C (p.Met2252Thr)	POLE (M2252T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1755247	NM_006231.4(POLE):c.6754A>C (p.Met2252Leu)	POLE (M2252L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060085	NM_006231.4(POLE):c.6754A>T (p.Met2252Leu)	POLE (M2252L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 240617	NM_006231.4(POLE):c.6754A>G (p.Met2252Val)	POLE (M2252V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1755241	NM_006231.4(POLE):c.6750C>G (p.Val2250=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1755211	NM_006231.4(POLE):c.6749T>C (p.Val2250Ala)	POLE (V2250A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1517830	NM_006231.4(POLE):c.6748G>T (p.Val2250Phe)	POLE (V2250F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 826597	NM_006231.4(POLE):c.6748-1G>A	POLE	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484444	NM_006231.4(POLE):c.6747+5G>A	POLE	Single nucleotide variant (intron variant)	Familial colorectal cancer +2 more	GUncertain significance
Select item 1755202	NM_006231.4(POLE):c.6744C>G (p.Thr2248=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1755201	NM_006231.4(POLE):c.6744C>A (p.Thr2248=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2447940	NM_006231.4(POLE):c.6743C>T (p.Thr2248Ile)	POLE (T2248I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1755192	NM_006231.4(POLE):c.6741C>A (p.His2247Gln)	POLE (H2247Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 473812	NM_006231.4(POLE):c.6741C>T (p.His2247=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1596729	NM_006231.4(POLE):c.6738C>T (p.Ile2246=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 846512	NM_006231.4(POLE):c.6736A>G (p.Ile2246Val)	POLE (I2246V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1755161	NM_006231.4(POLE):c.6735C>T (p.Thr2245=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 473811	NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser)	POLE (T2245S)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GUncertain significance
Select item 1755147	NM_006231.4(POLE):c.6732C>T (p.Leu2244=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 473810	NM_006231.4(POLE):c.6726C>T (p.Phe2242=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1755098	NM_006231.4(POLE):c.6723C>T (p.Asp2241=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2562936	NM_006231.4(POLE):c.6722A>G (p.Asp2241Gly)	POLE (D2241G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 701723	NM_006231.4(POLE):c.6717G>A (p.Ala2239=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1755065	NM_006231.4(POLE):c.6715G>T (p.Ala2239Ser)	POLE (A2239S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 220909	NM_006231.4(POLE):c.6714C>T (p.Cys2238=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1018683	NM_006231.4(POLE):c.6707G>A (p.Cys2236Tyr)	POLE (C2236Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2562930	NM_006231.4(POLE):c.6703T>A (p.Tyr2235Asn)	POLE (Y2235N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1129562	NM_006231.4(POLE):c.6702G>A (p.Val2234=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 382651	NM_006231.4(POLE):c.6699T>C (p.Pro2233=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1054715	NM_006231.4(POLE):c.6698C>T (p.Pro2233Leu)	POLE (P2233L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 860676	NM_006231.4(POLE):c.6697C>T (p.Pro2233Ser)	POLE (P2233S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 838038	NM_006231.4(POLE):c.6696G>T (p.Met2232Ile)	POLE (M2232I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 484482	NM_006231.4(POLE):c.6693C>T (p.Ser2231=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2971070	NM_006231.4(POLE):c.6690C>T (p.Thr2230=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1368639	NM_006231.4(POLE):c.6689C>T (p.Thr2230Ile)	POLE (T2230I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3308388	NM_006231.4(POLE):c.6687G>A (p.Glu2229=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1754868	NM_006231.4(POLE):c.6684G>A (p.Lys2228=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 240613	NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)	POLE	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 484467	NM_006231.4(POLE):c.6678G>A (p.Gly2226=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 473808	NM_006231.4(POLE):c.6675C>G (p.Arg2225=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 220842	NM_006231.4(POLE):c.6675C>T (p.Arg2225=)	POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

<< First< Prev

Page of 38