ClinVar for MedGen (Select 1684464) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804889	NM_006231.4(POLE):c.6571C>T (p.Gln2191Ter)	POLE (Q2191*)	Single nucleotide variant (nonsense)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	GPathogenic
Select item 1676477	NM_006231.4(POLE):c.6398_6407del (p.Val2133fs)	POLE (V2133fs)	Deletion	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	GLikely pathogenic
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 1281902	NM_006231.4(POLE):c.2864+37A>G	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GBenign
Select item 1249118	NM_006231.4(POLE):c.1359+43G>A	POLE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1232447	NM_006231.4(POLE):c.5173+39G>A	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GBenign
Select item 1050781	NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)	POLE (E1459*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 982772	NM_006231.4(POLE):c.2551G>A (p.Glu851Lys)	POLE (E851K)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +1 more	GUncertain significance
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 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 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 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 695292	NM_006231.4(POLE):c.2865-4del	POLE	Deletion (intron variant)	Colorectal cancer, susceptibility to, 12 +4 more	GBenign/Likely benign
Select item 676506	NM_006231.4(POLE):c.5812-21G>A	POLE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 676501	NM_006231.4(POLE):c.5553-43T>C	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +2 more	GBenign
Select item 676496	NM_006231.4(POLE):c.2562-48T>C	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GBenign
Select item 619906	NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn)	POLE (T2023N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 619085	NM_006231.4(POLE):c.1686+32C>G	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 581857	NM_006231.4(POLE):c.2049C>G (p.Tyr683Ter)	POLE (Y683*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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 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 548827	NM_006231.4(POLE):c.2865-5_2865-4del	POLE	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
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 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 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 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 540694	NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg)	POLE (G2046R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 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 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 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 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 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 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 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 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 473720	NM_006231.4(POLE):c.5265del (p.Ile1756fs)	POLE (I1756fs)	Deletion (frameshift variant)	POLE-related disorder +1 more	GPathogenic/Likely pathogenic
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 473616	NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)	POLE (R1233Q)	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 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 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 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 422515	NM_006231.4(POLE):c.-47G>T	LOC130009266, POLE	Single nucleotide variant	not provided +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 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 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 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 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 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 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 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 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 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 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 405620	NM_006231.4(POLE):c.3019G>C (p.Ala1007Pro)	POLE (A1007P)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 403332	NM_006231.4(POLE):c.5636G>A (p.Arg1879His)	POLE (R1879H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 389303	NM_006231.4(POLE):c.3219G>T (p.Gly1073=)	POLE	Single nucleotide variant (synonymous variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GConflicting classifications of pathogenicity
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 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 380231	NM_006231.4(POLE):c.4552-10G>T	POLE	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 380218	NM_006231.4(POLE):c.6330+15G>A	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GBenign
Select item 380217	NM_006231.4(POLE):c.6252A>G (p.Ser2084=)	POLE	Single nucleotide variant (synonymous variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GBenign
Select item 380215	NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser)	POLE (N1396S)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 380214	NM_006231.4(POLE):c.4530A>G (p.Ala1510=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 380212	NM_006231.4(POLE):c.3156G>A (p.Thr1052=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 380211	NM_006231.4(POLE):c.3582+17A>G	POLE	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 380209	NM_006231.4(POLE):c.910-6G>C	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 380208	NM_006231.4(POLE):c.62+15C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
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 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 371835	NM_006231.4(POLE):c.6657+16C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +4 more	GBenign
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 240634	NM_006231.4(POLE):c.94C>T (p.Leu32Phe)	POLE (L32F)	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 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 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 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 240592	NM_006231.4(POLE):c.6334C>G (p.Leu2112Val)	POLE (L2112V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 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 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 240518	NM_006231.4(POLE):c.4476C>T (p.His1492=)	POLE	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 240508	NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)	POLE (A1416T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
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 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 240415	NM_006231.4(POLE):c.1A>T (p.Met1Leu)	LOC130009266, POLE (M1L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 221145	NM_006231.4(POLE):c.1359+9G>A	POLE	Single nucleotide variant (intron variant)	not specified +4 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 221106	NM_006231.4(POLE):c.5678+4C>T	POLE	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
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

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