"Fulgent Genetics, Fulgent Genetics"[submitter] AND "POLE"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240620	NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser)	POLE (G2266S)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GUncertain significance
Select item 221175	NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)	POLE (I2255F)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely 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 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 240612	NM_006231.4(POLE):c.6674G>A (p.Arg2225His)	POLE (R2225H)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GConflicting classifications of pathogenicity
Select item 540727	NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln)	POLE (K2210Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 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 971169	NM_006231.4(POLE):c.6483dup (p.Asn2162Ter)	POLE (N2162*)	Duplication (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 240596	NM_006231.4(POLE):c.6476G>A (p.Arg2159His)	POLE (R2159H)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GConflicting classifications of pathogenicity
Select item 540744	NM_006231.4(POLE):c.6454G>A (p.Val2152Met)	POLE (V2152M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GUncertain significance
Select item 405704	NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)	POLE (R2149C)	Single nucleotide variant (missense variant)	Familial colorectal cancer +5 more	GConflicting classifications of pathogenicity
Select item 405619	NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln)	POLE (R2145Q)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GUncertain significance
Select item 380642	NM_006231.4(POLE):c.6330+18C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +4 more	GBenign/Likely benign
Select item 405634	NM_006231.4(POLE):c.6073G>A (p.Val2025Met)	POLE (V2025M)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +6 more	GUncertain significance
Select item 240582	NM_006231.4(POLE):c.6050G>A (p.Arg2017His)	POLE (R2017H)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 405805	NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys)	POLE (R2017C)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more	GUncertain significance
Select item 405680	NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)	POLE (E1956K)	Single nucleotide variant (missense variant)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 405854	NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)	POLE (N1921D)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 221106	NM_006231.4(POLE):c.5678+4C>T	POLE	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 405655	NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys)	POLE (E1888K)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GUncertain significance
Select item 221105	NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)	POLE (K1857R)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 473740	NM_006231.4(POLE):c.5559C>T (p.Ile1853=)	POLE	Single nucleotide variant (synonymous variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GLikely benign
Select item 240562	NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)	POLE (N1843del)	Microsatellite (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 240558	NM_006231.4(POLE):c.5478G>T (p.Arg1826=)	POLE	Single nucleotide variant (synonymous variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GBenign/Likely benign
Select item 240556	NM_006231.4(POLE):c.5382C>G (p.Ile1794Met)	POLE (I1794M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 540718	NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn)	POLE (I1756N)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 240550	NM_006231.4(POLE):c.5124C>T (p.Phe1708=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 405795	NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys)	POLE (R1679C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GUncertain significance
Select item 240545	NM_006231.4(POLE):c.4901G>A (p.Arg1634His)	POLE (R1634H)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GConflicting classifications of pathogenicity
Select item 240542	NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp)	POLE (R1630W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 849586	NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu)	POLE (P1601L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 473692	NM_006231.4(POLE):c.4759G>A (p.Val1587Ile)	POLE (V1587I)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 240539	NM_006231.4(POLE):c.4736G>A (p.Arg1579His)	POLE (R1579H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 240530	NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)	POLE (G1535S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 403333	NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr)	POLE (A1528T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 380231	NM_006231.4(POLE):c.4552-10G>T	POLE	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 473670	NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)	POLE (R1508G)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 240524	NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala)	POLE (P1505A)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 473669	NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe)	POLE (I1504F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 405884	NM_006231.4(POLE):c.4493C>T (p.Ala1498Val)	POLE (A1498V)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more	GUncertain significance
Select item 403334	NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr)	POLE (A1493T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 240518	NM_006231.4(POLE):c.4476C>T (p.His1492=)	POLE	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 240515	NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu)	POLE (I1484L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 405736	NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)	POLE (N1448S)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GConflicting classifications of pathogenicity
Select item 405827	NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser)	POLE (T1429S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 405845	NM_006231.4(POLE):c.4276G>A (p.Val1426Ile)	POLE (V1426I)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more	GUncertain significance
Select item 405695	NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys)	POLE (E1424K)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 220758	NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	POLE (A1420V)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 246358	NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys)	POLE (S1391C)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 405766	NM_006231.4(POLE):c.4145G>A (p.Arg1382His)	POLE (R1382H)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 240497	NM_006231.4(POLE):c.4011C>T (p.Ser1337=)	POLE	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 578965	NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu)	POLE (P1330L)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GUncertain significance
Select item 405702	NM_006231.4(POLE):c.3857G>A (p.Arg1286His)	POLE (R1286H)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 405763	NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp)	POLE (R1284W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 220928	NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)	POLE (A1224L)	Indel (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 484447	NM_006231.4(POLE):c.3652G>A (p.Val1218Ile)	POLE (V1218I)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 577998	NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg)	POLE (S1204R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 240461	NM_006231.4(POLE):c.3245G>A (p.Arg1082His)	POLE (R1082H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 246318	NM_006231.4(POLE):c.3230G>A (p.Arg1077His)	POLE (R1077H)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GConflicting classifications of pathogenicity
Select item 413565	NM_006231.4(POLE):c.3228C>T (p.Cys1076=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 695292	NM_006231.4(POLE):c.2865-4del	POLE	Deletion (intron variant)	Colorectal cancer, susceptibility to, 12 +4 more	GBenign/Likely benign
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 240444	NM_006231.4(POLE):c.2773T>C (p.Ser925Pro)	POLE (S925P)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 405595	NM_006231.4(POLE):c.2770C>T (p.Arg924Cys)	POLE (R924C)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more	GUncertain significance
Select item 514754	NM_006231.4(POLE):c.2706+11G>C	POLE	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 265355	NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	POLE (A895T)	Single nucleotide variant (missense variant)	Hereditary cancer +6 more	GConflicting classifications of pathogenicity
Select item 220683	NM_006231.4(POLE):c.2561+6T>C	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 221167	NM_006231.4(POLE):c.2550C>T (p.Ile850=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 221103	NM_006231.4(POLE):c.2468+10C>T	POLE	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 473531	NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu)	POLE	Duplication (inframe_insertion)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GUncertain significance
Select item 540644	NM_006231.4(POLE):c.2384A>G (p.Lys795Arg)	POLE (K795R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +5 more	GConflicting classifications of pathogenicity
Select item 473524	NM_006231.4(POLE):c.2362G>A (p.Ala788Thr)	POLE (A788T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 240433	NM_006231.4(POLE):c.2359G>A (p.Asp787Asn)	POLE (D787N)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
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 246203	NM_006231.4(POLE):c.2225G>A (p.Arg742His)	POLE (R742H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 571057	NM_006231.4(POLE):c.2182C>T (p.Arg728Trp)	POLE (R728W)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GUncertain significance
Select item 405853	NM_006231.4(POLE):c.2131T>C (p.Ser711Pro)	POLE (S711P)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 540760	NM_006231.4(POLE):c.2113C>T (p.Arg705Trp)	POLE (R705W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 405654	NM_006231.4(POLE):c.2090C>T (p.Pro697Leu)	POLE (P697L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 540617	NM_006231.4(POLE):c.2020G>A (p.Glu674Lys)	POLE (E674K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 405887	NM_006231.4(POLE):c.1940A>T (p.Asp647Val)	POLE (D647V)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more	GUncertain significance
Select item 934019	NM_006231.4(POLE):c.1915C>T (p.Arg639Cys)	POLE (R639C)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GUncertain significance
Select item 221157	NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys)	POLE (Y623C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 849118	NM_006231.4(POLE):c.1802A>T (p.Asp601Val)	POLE (D601V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 540799	NM_006231.4(POLE):c.1784A>G (p.Asn595Ser)	POLE (N595S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GUncertain significance
Select item 473482	NM_006231.4(POLE):c.1772A>G (p.Glu591Gly)	POLE (E591G)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GUncertain significance
Select item 568590	NM_006231.4(POLE):c.1760A>G (p.Lys587Arg)	POLE (K587R)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GUncertain significance
Select item 371906	NM_006231.4(POLE):c.1359+18C>T	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GBenign/Likely benign
Select item 221145	NM_006231.4(POLE):c.1359+9G>A	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 40046	NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	POLE (L424V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 423238	NM_006231.4(POLE):c.1108C>A (p.Pro370Thr)	POLE (P370T)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 240374	NM_006231.4(POLE):c.1064A>G (p.Lys355Arg)	POLE (K355R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 484505	NM_006231.4(POLE):c.1041G>T (p.Trp347Cys)	POLE (W347C)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 484551	NM_006231.4(POLE):c.955G>A (p.Asp319Asn)	POLE (D319N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 240632	NM_006231.4(POLE):c.846C>T (p.Pro282=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 221119	NM_006231.4(POLE):c.724C>T (p.His242Tyr)	POLE (H242Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 371978	NM_006231.4(POLE):c.720+16T>C	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 405901	NM_006231.4(POLE):c.575C>T (p.Ser192Phe)	POLE (S192F)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 405687	NM_006231.4(POLE):c.431A>G (p.His144Arg)	POLE (H144R)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +6 more	GUncertain significance

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