"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 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 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 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 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 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 747446	NM_006231.4(POLE):c.6748-6C>T	POLE	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 473811	NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser)	POLE (T2245S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 240616	NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe)	POLE (L2244F)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 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)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 240613	NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)	POLE	Deletion (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 484467	NM_006231.4(POLE):c.6678G>A (p.Gly2226=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 220842	NM_006231.4(POLE):c.6675C>T (p.Arg2225=)	POLE	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 220967	NM_006231.4(POLE):c.6658-7C>A	POLE	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 240604	NM_006231.4(POLE):c.6597C>T (p.Ile2199=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 619723	NM_006231.4(POLE):c.6590C>T (p.Ser2197Phe)	POLE (S2197F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 220704	NM_006231.4(POLE):c.6563C>G (p.Ser2188Cys)	POLE (S2188C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 801269	NM_006231.4(POLE):c.6535G>A (p.Gly2179Arg)	POLE (G2179R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240601	NM_006231.4(POLE):c.6531+6G>T	POLE	Single nucleotide variant (intron variant)	POLE-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 439279	NM_006231.4(POLE):c.6531+5G>A	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 240598	NM_006231.4(POLE):c.6495C>T (p.Arg2165=)	POLE	Single nucleotide variant (synonymous variant)	not specified +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 specified +3 more	GBenign/Likely benign
Select item 240596	NM_006231.4(POLE):c.6476G>A (p.Arg2159His)	POLE (R2159H)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
Select item 540744	NM_006231.4(POLE):c.6454G>A (p.Val2152Met)	POLE (V2152M)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GUncertain significance
Select item 221143	NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)	POLE	Single nucleotide variant (synonymous variant)	not specified +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 provided +3 more	GBenign/Likely benign
Select item 387900	NM_006231.4(POLE):c.6405C>T (p.Val2135=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 473800	NM_006231.4(POLE):c.6391C>T (p.Arg2131Cys)	POLE (R2131C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240591	NM_006231.4(POLE):c.6331-8C>T	POLE	Single nucleotide variant (intron variant)	POLE-related disorder +4 more	GBenign/Likely benign
Select item 240590	NM_006231.4(POLE):c.6328A>G (p.Lys2110Glu)	POLE (K2110E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 801268	NM_006231.4(POLE):c.6279C>T (p.Ser2093=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 473789	NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser)	POLE (P2091S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GConflicting classifications of pathogenicity
Select item 573108	NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)	POLE (A2056T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 540694	NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg)	POLE (G2046R)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 473783	NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg)	POLE (G2042R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 486949	NM_006231.4(POLE):c.6120G>A (p.Ala2040=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 391387	NM_006231.4(POLE):c.6111C>T (p.Ala2037=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 405634	NM_006231.4(POLE):c.6073G>A (p.Val2025Met)	POLE (V2025M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 619906	NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn)	POLE (T2023N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 240583	NM_006231.4(POLE):c.6068C>T (p.Thr2023Ile)	POLE (T2023I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 240582	NM_006231.4(POLE):c.6050G>A (p.Arg2017His)	POLE (R2017H)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 473779	NM_006231.4(POLE):c.6045G>A (p.Leu2015=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 393042	NM_006231.4(POLE):c.6018C>T (p.Ala2006=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 220739	NM_006231.4(POLE):c.6004+5G>T	POLE	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 473774	NM_006231.4(POLE):c.5913C>T (p.Asn1971=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 439278	NM_006231.4(POLE):c.5912A>G (p.Asn1971Ser)	POLE (N1971S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 560847	NM_006231.4(POLE):c.5907A>C (p.Glu1969Asp)	POLE (E1969D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381648	NM_006231.4(POLE):c.5862C>T (p.Asp1954=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 473767	NM_006231.4(POLE):c.5836G>A (p.Ala1946Thr)	POLE (A1946T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 484591	NM_006231.4(POLE):c.5811+5G>A	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 240573	NM_006231.4(POLE):c.5769C>T (p.Gly1923=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 405854	NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)	POLE (N1921D)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 473761	NM_006231.4(POLE):c.5757A>G (p.Pro1919=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 221106	NM_006231.4(POLE):c.5678+4C>T	POLE	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 405655	NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys)	POLE (E1888K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 240570	NM_006231.4(POLE):c.5659G>A (p.Val1887Met)	POLE (V1887M)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GConflicting classifications of pathogenicity
Select item 389099	NM_006231.4(POLE):c.5658C>T (p.Tyr1886=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 405886	NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr)	POLE (A1885T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 846801	NM_006231.4(POLE):c.5650A>G (p.Ile1884Val)	POLE (I1884V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993147	NM_006231.4(POLE):c.5645A>C (p.Asp1882Ala)	POLE (D1882A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 240569	NM_006231.4(POLE):c.5633G>A (p.Arg1878His)	POLE (R1878H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619905	NM_006231.4(POLE):c.5607C>T (p.Asn1869=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 240567	NM_006231.4(POLE):c.5596G>A (p.Ala1866Thr)	POLE (A1866T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240566	NM_006231.4(POLE):c.5583A>C (p.Ser1861=)	POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 473746	NM_006231.4(POLE):c.5578G>C (p.Gly1860Arg)	POLE (G1860R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 473745	NM_006231.4(POLE):c.5572C>T (p.Arg1858Cys)	POLE (R1858C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 221105	NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)	POLE (K1857R)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 707621	NM_006231.4(POLE):c.5562T>C (p.Ala1854=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 240561	NM_006231.4(POLE):c.5507C>T (p.Ala1836Val)	POLE (A1836V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 240560	NM_006231.4(POLE):c.5496T>C (p.Leu1832=)	POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 405627	NM_006231.4(POLE):c.5480C>T (p.Ser1827Leu)	POLE (S1827L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 240558	NM_006231.4(POLE):c.5478G>T (p.Arg1826=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 583360	NM_006231.4(POLE):c.5476C>T (p.Arg1826Trp)	POLE (R1826W)	Single nucleotide variant (missense variant)	not provided	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 413526	NM_006231.4(POLE):c.5346C>T (p.Tyr1782=)	POLE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 380429	NM_006231.4(POLE):c.5334C>T (p.Ala1778=)	POLE	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 473724	NM_006231.4(POLE):c.5313G>T (p.Thr1771=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 405600	NM_006231.4(POLE):c.5312C>T (p.Thr1771Met)	POLE (T1771M)	Single nucleotide variant (missense variant)	POLE-related disorder +3 more	GUncertain significance
Select item 801267	NM_006231.4(POLE):c.5248G>A (p.Gly1750Arg)	POLE (G1750R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 420695	NM_006231.4(POLE):c.5215A>G (p.Ile1739Val)	POLE (I1739V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 372025	NM_006231.4(POLE):c.5173+10C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +3 more	GLikely benign
Select item 221104	NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)	POLE (A1712V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 240551	NM_006231.4(POLE):c.5125G>A (p.Asp1709Asn)	POLE (D1709N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240550	NM_006231.4(POLE):c.5124C>T (p.Phe1708=)	POLE	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 484481	NM_006231.4(POLE):c.5090AGG[1] (p.Glu1698del)	POLE (E1698del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 405690	NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp)	POLE (G1695D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574334	NM_006231.4(POLE):c.5060C>A (p.Ser1687Tyr)	POLE (S1687Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 486964	NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter)	POLE (Q1678*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 413543	NM_006231.4(POLE):c.5007C>T (p.Ser1669=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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