C3554460[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 240613	NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)	POLE	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
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 548736	NM_006231.4(POLE):c.6658-1G>A	POLE	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
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 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 371835	NM_006231.4(POLE):c.6657+16C>T	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
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 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 548894	NM_006231.4(POLE):c.6532-21_6532-20del	POLE	Microsatellite (intron variant)	Colorectal cancer, susceptibility to, 12 +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 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 220866	NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)	POLE (E2140K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 371916	NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter)	POLE (R2127*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12 +1 more	GConflicting classifications of pathogenicity
Select item 240591	NM_006231.4(POLE):c.6331-8C>T	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 371939	NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs)	POLE (N2079fs)	Deletion (frameshift variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 371944	NM_006231.4(POLE):c.6004+11A>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +3 more	GConflicting classifications of pathogenicity
Select item 220739	NM_006231.4(POLE):c.6004+5G>T	POLE	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 548734	NM_006231.4(POLE):c.5965del (p.Ala1989fs)	POLE (A1989fs)	Deletion (frameshift variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 486952	NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter)	POLE (W1980*)	Single nucleotide variant (nonsense)	POLE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 371907	NM_006231.4(POLE):c.5811+16T>C	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign/Likely benign
Select item 372065	NM_006231.4(POLE):c.5811+13C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 221083	NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)	POLE (C1935Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 548924	NM_006231.4(POLE):c.5679-14T>C	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 221106	NM_006231.4(POLE):c.5678+4C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +5 more	GBenign/Likely benign
Select item 240562	NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)	POLE (N1843del)	Microsatellite (inframe_deletion)	Colorectal cancer, susceptibility to, 12 +4 more	GUncertain significance
Select item 439277	NM_006231.4(POLE):c.5398G>A (p.Val1800Met)	POLE (V1800M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 372018	NM_006231.4(POLE):c.5379-5T>C	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 372013	NM_006231.4(POLE):c.5379-19C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 371905	NM_006231.4(POLE):c.5174-6G>C	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 511834	NM_006231.4(POLE):c.5174-17G>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 371888	NM_006231.4(POLE):c.5173+17A>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 372025	NM_006231.4(POLE):c.5173+10C>T	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 371927	NM_006231.4(POLE):c.4952+20_4952+22del	POLE	Deletion (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 371873	NM_006231.4(POLE):c.4952+17_4952+19dup	POLE	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 371954	NM_006231.4(POLE):c.4952+17C>T	POLE	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372000	NM_006231.4(POLE):c.4952+13C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GLikely benign
Select item 371925	NM_006231.4(POLE):c.4952+11T>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 405778	NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)	POLE (W1624*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 473694	NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg)	POLE (L1608R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 372011	NM_006231.4(POLE):c.4729-16dup	POLE	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 548829	NM_006231.4(POLE):c.4728+14_4728+21del	POLE	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 548755	NM_006231.4(POLE):c.4631dup (p.Leu1545fs)	POLE (L1545fs)	Duplication (frameshift variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 240530	NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)	POLE (G1535S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 473671	NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys)	POLE (R1508C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 371912	NM_006231.4(POLE):c.4291-11G>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GLikely benign
Select item 220758	NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	POLE (A1420V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +5 more	GBenign/Likely benign
Select item 246313	NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser)	POLE (N1415S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 240504	NM_006231.4(POLE):c.4150-6C>T	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 513278	NM_006231.4(POLE):c.4150-12T>C	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 372067	NM_006231.4(POLE):c.4150-13G>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 371884	NM_006231.4(POLE):c.4149+12C>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 371979	NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter)	POLE (R1371*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 371932	NM_006231.4(POLE):c.4005+20G>A	POLE	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 240486	NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu)	POLE (S1297L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 240474	NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup)	POLE	Microsatellite (inframe_insertion)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 548812	NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer)	POLE	Duplication (frameshift variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 372061	NM_006231.4(POLE):c.3459+2T>C	POLE	Single nucleotide variant (splice donor variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 516947	NM_006231.4(POLE):c.3379-17G>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 372059	NM_006231.4(POLE):c.3379-18C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GLikely benign
Select item 371911	NM_006231.4(POLE):c.3378+15C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 240464	NM_006231.4(POLE):c.3378+10A>G	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 240465	NM_006231.4(POLE):c.3378+7G>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign/Likely benign
Select item 548733	NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter)	POLE (W1113*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 372049	NM_006231.4(POLE):c.3275+12_3275+37dup	POLE	Duplication (splice donor variant)	not specified +1 more	GLikely benign
Select item 371886	NM_006231.4(POLE):c.3275+16A>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 240462	NM_006231.4(POLE):c.3265_3275+15dup	POLE	Duplication (splice donor variant)	not specified +3 more	GBenign/Likely benign
Select item 372054	NM_006231.4(POLE):c.3275+14C>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GLikely benign
Select item 548915	NM_006231.4(POLE):c.3061-12G>C	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 548839	NM_006231.4(POLE):c.2932dup (p.Glu978fs)	POLE (E978fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 548907	NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)	POLE (E978*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 548827	NM_006231.4(POLE):c.2865-5_2865-4del	POLE	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 383076	NM_006231.4(POLE):c.2707-9G>A	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 265355	NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	POLE (A895T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 405751	NM_006231.4(POLE):c.2612G>C (p.Ser871Thr)	POLE (S871T)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 548923	NM_006231.4(POLE):c.2562-5T>G	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 220683	NM_006231.4(POLE):c.2561+6T>C	POLE	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 221167	NM_006231.4(POLE):c.2550C>T (p.Ile850=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +5 more	GBenign/Likely benign
Select item 371896	NM_006231.4(POLE):c.2468+19G>A	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 221103	NM_006231.4(POLE):c.2468+10C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +5 more	GBenign/Likely benign
Select item 548766	NM_006231.4(POLE):c.2468+2dup	POLE	Duplication (splice donor variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 422881	NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del)	POLE (A782del)	Microsatellite (inframe_deletion)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 548841	NM_006231.4(POLE):c.2320-9G>T	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 240431	NM_006231.4(POLE):c.2276G>A (p.Arg759His)	POLE (R759H)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 386535	NM_006231.4(POLE):c.2174-11G>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GConflicting classifications of pathogenicity
Select item 548832	NM_006231.4(POLE):c.2174-12C>G	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381466	NM_006231.4(POLE):c.2174-15C>T	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 221179	NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)	POLE (F695I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 372010	NM_006231.4(POLE):c.2027-16A>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 371893	NM_006231.4(POLE):c.2026+14G>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GLikely benign
Select item 372006	NM_006231.4(POLE):c.2026+9C>T	POLE	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 421176	NM_006231.4(POLE):c.1957G>T (p.Ala653Ser)	POLE (A653S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 422279	NM_006231.4(POLE):c.1924-23_1927del	POLE	Deletion (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 413539	NM_006231.4(POLE):c.1924-6T>C	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GBenign/Likely benign
Select item 381784	NM_006231.4(POLE):c.1795-14C>T	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign

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