C5193036[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 71

	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 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 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 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 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 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 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 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 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 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 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 240518	NM_006231.4(POLE):c.4476C>T (p.His1492=)	POLE	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 1536922	NM_006231.4(POLE):c.415C>T (p.Leu139=)	POLE	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 389081	NM_006231.4(POLE):c.318T>C (p.Ile106=)	POLE	Single nucleotide variant (synonymous variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GLikely benign
Select item 405626	NM_006231.4(POLE):c.218A>G (p.Asp73Gly)	POLE (D73G)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GUncertain significance
Select item 540690	NM_006231.4(POLE):c.109C>T (p.Arg37Trp)	POLE (R37W)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GUncertain significance
Select item 473825	NM_006231.4(POLE):c.73G>T (p.Ala25Ser)	POLE (A25S)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more	GUncertain significance
Select item 540767	NM_006231.4(POLE):c.34G>A (p.Asp12Asn)	LOC130009266, POLE (D12N)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +5 more	GUncertain significance
Select item 405608	NM_006231.4(POLE):c.1A>G (p.Met1Val)	LOC130009266, POLE (M1V)	Single nucleotide variant (missense variant +1 more)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GConflicting classifications of pathogenicity
Select item 405585	NM_006231.4(POLE):c.1A>C (p.Met1Leu)	LOC130009266, POLE (M1L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
Select item 422515	NM_006231.4(POLE):c.-47G>T	LOC130009266, POLE	Single nucleotide variant	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71