"GeneDx"[submitter] AND "POLE"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	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 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 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 473816	NM_006231.4(POLE):c.6847C>G (p.Gln2283Glu)	POLE (Q2283E)	Single nucleotide variant (missense variant)	not provided	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 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 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)	not specified +3 more	GBenign/Likely benign
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 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 240620	NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser)	POLE (G2266S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +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 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 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 405706	NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln)	POLE (R2259Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 421275	NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp)	POLE (R2259W)	Single nucleotide variant (missense variant)	Hereditary cancer +1 more	GConflicting classifications of pathogenicity
Select item 405762	NM_006231.4(POLE):c.6767G>C (p.Gly2256Ala)	POLE (G2256A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381926	NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg)	POLE (G2256R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 240618	NM_006231.4(POLE):c.6763A>G (p.Ile2255Val)	POLE (I2255V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 405677	NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)	POLE (F2251L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
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 385730	NM_006231.4(POLE):c.6748-11T>A	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 517943	NM_006231.4(POLE):c.6747+11_6747+14del	POLE	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 240616	NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe)	POLE (L2244F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 405644	NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)	POLE (A2239V)	Single nucleotide variant (missense variant)	not specified +1 more	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 382651	NM_006231.4(POLE):c.6699T>C (p.Pro2233=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 240613	NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)	POLE	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 540703	NM_006231.4(POLE):c.6676G>A (p.Gly2226Arg)	POLE (G2226R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 240612	NM_006231.4(POLE):c.6674G>A (p.Arg2225His)	POLE (R2225H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 240611	NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)	POLE (K2223R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
Select item 240610	NM_006231.4(POLE):c.6666G>A (p.Leu2222=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 579764	NM_006231.4(POLE):c.6658-2A>G	POLE	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 220967	NM_006231.4(POLE):c.6658-7C>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +3 more	GConflicting classifications of pathogenicity
Select item 510491	NM_006231.4(POLE):c.6658-12G>C	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 384458	NM_006231.4(POLE):c.6658-19C>T	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 246255	NM_006231.4(POLE):c.6658-19C>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 677091	NM_006231.4(POLE):c.6658-88G>A	POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679782	NM_006231.4(POLE):c.6658-200C>T	POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293826	NM_006231.4(POLE):c.6657+284A>G	POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241521	NM_006231.4(POLE):c.6657+227G>A	POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241392	NM_006231.4(POLE):c.6657+64C>T	POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 371835	NM_006231.4(POLE):c.6657+16C>T	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 240609	NM_006231.4(POLE):c.6657+9T>C	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 389167	NM_006231.4(POLE):c.6657+8G>A	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1126342	NM_006231.4(POLE):c.6646C>T (p.Leu2216=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 240608	NM_006231.4(POLE):c.6631C>T (p.Leu2211=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 515288	NM_006231.4(POLE):c.6630G>A (p.Lys2210=)	POLE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 540727	NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln)	POLE (K2210Q)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 569695	NM_006231.4(POLE):c.6610G>A (p.Val2204Met)	POLE (V2204M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 240607	NM_006231.4(POLE):c.6606G>A (p.Thr2202=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 240606	NM_006231.4(POLE):c.6605C>T (p.Thr2202Met)	POLE (T2202M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 240604	NM_006231.4(POLE):c.6597C>T (p.Ile2199=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1306537	NM_006231.4(POLE):c.6593C>T (p.Ala2198Val)	POLE (A2198V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 484547	NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del)	POLE (S2197del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 240603	NM_006231.4(POLE):c.6576G>A (p.Ala2192=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 405847	NM_006231.4(POLE):c.6575C>T (p.Ala2192Val)	POLE (A2192V)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2444728	NM_006231.4(POLE):c.6565_6568del (p.Asn2189fs)	POLE (N2189fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 246115	NM_006231.4(POLE):c.6537_6541del (p.Ala2180fs)	POLE (A2180fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 413523	NM_006231.4(POLE):c.6540G>A (p.Ala2180=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 246197	NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)	POLE (A2180V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 405638	NM_006231.4(POLE):c.6536_6537delinsCT (p.Gly2179Ala)	POLE (G2179A)	Indel (missense variant)	not provided	GUncertain significance
Select item 1305428	NM_006231.4(POLE):c.6533A>G (p.Asp2178Gly)	POLE (D2178G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682561	NM_006231.4(POLE):c.6532-4C>G	POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381931	NM_006231.4(POLE):c.6532-11G>C	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 372002	NM_006231.4(POLE):c.6532-19G>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 383854	NM_006231.4(POLE):c.6532-20C>T	POLE	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1182417	NM_006231.4(POLE):c.6532-72C>T	POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208872	NM_006231.4(POLE):c.6532-113G>T	POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388395	NM_006231.4(POLE):c.6531+15C>T	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 382016	NM_006231.4(POLE):c.6531+12C>T	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 240601	NM_006231.4(POLE):c.6531+6G>T	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 439279	NM_006231.4(POLE):c.6531+5G>A	POLE	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 405609	NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs)	POLE (S2173fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 473804	NM_006231.4(POLE):c.6508T>C (p.Cys2170Arg)	POLE (C2170R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 240600	NM_006231.4(POLE):c.6507G>A (p.Leu2169=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1141636	NM_006231.4(POLE):c.6498C>T (p.Asp2166=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 857020	NM_006231.4(POLE):c.6496G>T (p.Asp2166Tyr)	POLE (D2166Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240598	NM_006231.4(POLE):c.6495C>T (p.Arg2165=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 220837	NM_006231.4(POLE):c.6494G>A (p.Arg2165His)	POLE (R2165H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 240597	NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys)	POLE (R2165C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 240596	NM_006231.4(POLE):c.6476G>A (p.Arg2159His)	POLE (R2159H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 505637	NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys)	POLE (R2159C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422648	NM_006231.4(POLE):c.6466G>A (p.Val2156Ile)	POLE (V2156I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420648	NM_006231.4(POLE):c.6457del (p.Leu2153fs)	POLE (L2153fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 540753	NM_006231.4(POLE):c.6454G>T (p.Val2152Leu)	POLE (V2152L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540744	NM_006231.4(POLE):c.6454G>A (p.Val2152Met)	POLE (V2152M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 221143	NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)	POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 579597	NM_006231.4(POLE):c.6451T>A (p.Tyr2151Asn)	POLE (Y2151N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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