ClinVar for Gene (Select 5426) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377792	NM_006231.4(POLE):c.4676del (p.Thr1559fs)	POLE (T1559fs)	Deletion (frameshift variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 3377791	NM_006231.4(POLE):c.778C>G (p.Arg260Gly)	POLE (R260G)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 3377790	NM_006231.4(POLE):c.2435T>G (p.Leu812Arg)	POLE (L812R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 3375720	NM_006231.4(POLE):c.831G>C (p.Glu277Asp)	POLE (E277D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375090	NM_006231.4(POLE):c.423+5G>C	POLE	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3372311	NM_006231.4(POLE):c.1913A>T (p.Asn638Ile)	POLE (N638I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371431	NM_006231.4(POLE):c.5892G>C (p.Glu1964Asp)	POLE (E1964D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371285	NM_006231.4(POLE):c.2533C>A (p.Gln845Lys)	POLE (Q845K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368655	NM_006231.4(POLE):c.234A>T (p.Leu78Phe)	POLE (L78F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368489	NM_006231.4(POLE):c.1474G>A (p.Val492Met)	POLE (V492M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368151	NM_006231.4(POLE):c.4042T>C (p.Trp1348Arg)	POLE (W1348R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368103	NM_006231.4(POLE):c.5518A>C (p.Thr1840Pro)	POLE (T1840P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365955	NM_006231.4(POLE):c.929G>T (p.Arg310Met)	POLE (R310M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365954	NM_006231.4(POLE):c.5552+5G>A	POLE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3364972	NM_006231.4(POLE):c.6326G>A (p.Cys2109Tyr)	POLE (C2109Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364716	NM_006231.4(POLE):c.4814A>G (p.Glu1605Gly)	POLE (E1605G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364682	NM_006231.4(POLE):c.2043C>G (p.Ser681Arg)	POLE (S681R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363693	NM_006231.4(POLE):c.1319A>G (p.Asp440Gly)	POLE (D440G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363502	NM_006231.4(POLE):c.4802C>A (p.Pro1601His)	POLE (P1601H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361880	NM_006231.4(POLE):c.2032G>C (p.Ala678Pro)	POLE (A678P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360532	NM_006231.4(POLE):c.480G>A (p.Val160=)	POLE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3343603	NM_006231.4(POLE):c.3335A>T (p.Lys1112Ile)	POLE (K1112I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343138	NM_006231.4(POLE):c.2730C>G (p.Tyr910Ter)	POLE (Y910*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3342015	NM_006231.4(POLE):c.799C>G (p.Pro267Ala)	POLE (P267A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340205	NM_006231.4(POLE):c.1373A>T (p.Tyr458Phe)	POLE (Y458F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3339064	NM_006231.4(POLE):c.230G>C (p.Arg77Pro)	POLE (R77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308450	NM_006231.4(POLE):c.5705C>T (p.Ser1902Phe)	POLE (S1902F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308449	NM_006231.4(POLE):c.5470T>G (p.Trp1824Gly)	POLE (W1824G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308448	NM_006231.4(POLE):c.1820T>G (p.Leu607Arg)	POLE (L607R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308447	NM_006231.4(POLE):c.6066C>T (p.Ser2022=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308446	NM_006231.4(POLE):c.6644C>T (p.Thr2215Ile)	POLE (T2215I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308444	NM_006231.4(POLE):c.1753G>A (p.Glu585Lys)	POLE (E585K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308443	NM_006231.4(POLE):c.2854T>C (p.Leu952=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308442	NM_006231.4(POLE):c.2185A>C (p.Lys729Gln)	POLE (K729Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308441	NM_006231.4(POLE):c.969C>T (p.Thr323=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308440	NM_006231.4(POLE):c.6114G>T (p.Glu2038Asp)	POLE (E2038D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308439	NM_006231.4(POLE):c.4346A>T (p.Lys1449Ile)	POLE (K1449I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308438	NM_006231.4(POLE):c.6213G>T (p.Gln2071His)	POLE (Q2071H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308436	NM_006231.4(POLE):c.6288G>T (p.Leu2096=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308435	NM_006231.4(POLE):c.2348T>A (p.Val783Glu)	POLE (V783E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308434	NM_006231.4(POLE):c.711G>A (p.Lys237=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308433	NM_006231.4(POLE):c.2313C>T (p.Leu771=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308432	NM_006231.4(POLE):c.1023T>C (p.Ala341=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308431	NM_006231.4(POLE):c.3930T>G (p.Gly1310=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308429	NM_006231.4(POLE):c.6009C>T (p.Tyr2003=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308428	NM_006231.4(POLE):c.6229T>C (p.Ser2077Pro)	POLE (S2077P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308427	NM_006231.4(POLE):c.4469A>G (p.Tyr1490Cys)	POLE (Y1490C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308426	NM_006231.4(POLE):c.4602C>G (p.His1534Gln)	POLE (H1534Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308424	NM_006231.4(POLE):c.6283T>C (p.Leu2095=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308423	NM_006231.4(POLE):c.3983A>G (p.Asp1328Gly)	POLE (D1328G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308422	NM_006231.4(POLE):c.5251G>T (p.Ala1751Ser)	POLE (A1751S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308421	NM_006231.4(POLE):c.4678G>A (p.Asp1560Asn)	POLE (D1560N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308420	NM_006231.4(POLE):c.1104C>A (p.Asp368Glu)	POLE (D368E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308419	NM_006231.4(POLE):c.5205C>G (p.Ala1735=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308418	NM_006231.4(POLE):c.3894A>G (p.Ala1298=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308416	NM_006231.4(POLE):c.4228C>T (p.His1410Tyr)	POLE (H1410Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308415	NM_006231.4(POLE):c.1910C>A (p.Thr637Asn)	POLE (T637N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308414	NM_006231.4(POLE):c.5070C>T (p.Ala1690=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308413	NM_006231.4(POLE):c.5821C>G (p.Gln1941Glu)	POLE (Q1941E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308412	NM_006231.4(POLE):c.4440A>G (p.Glu1480=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308411	NM_006231.4(POLE):c.3759A>T (p.Glu1253Asp)	POLE (E1253D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308410	NM_006231.4(POLE):c.6339C>G (p.Ser2113=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308409	NM_006231.4(POLE):c.3368A>T (p.Asp1123Val)	POLE (D1123V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308407	NM_006231.4(POLE):c.5946T>C (p.Ile1982=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308406	NM_006231.4(POLE):c.4165C>T (p.Pro1389Ser)	POLE (P1389S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308405	NM_006231.4(POLE):c.1939G>T (p.Asp647Tyr)	POLE (D647Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308404	NM_006231.4(POLE):c.2352G>A (p.Glu784=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308403	NM_006231.4(POLE):c.4413C>G (p.Arg1471=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308402	NM_006231.4(POLE):c.1608T>G (p.Ser536=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308400	NM_006231.4(POLE):c.4553T>C (p.Val1518Ala)	POLE (V1518A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308399	NM_006231.4(POLE):c.4094T>C (p.Val1365Ala)	POLE (V1365A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308398	NM_006231.4(POLE):c.2752T>A (p.Ser918Thr)	POLE (S918T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308397	NM_006231.4(POLE):c.5788T>G (p.Ser1930Ala)	POLE (S1930A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308396	NM_006231.4(POLE):c.2071G>A (p.Glu691Lys)	POLE (E691K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308395	NM_006231.4(POLE):c.1377T>C (p.Ser459=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308394	NM_006231.4(POLE):c.5592C>G (p.Ile1864Met)	POLE (I1864M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308393	NM_006231.4(POLE):c.2572G>A (p.Glu858Lys)	POLE (E858K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308391	NM_006231.4(POLE):c.3934G>T (p.Ala1312Ser)	POLE (A1312S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308390	NM_006231.4(POLE):c.1514T>C (p.Leu505Pro)	POLE (L505P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308389	NM_006231.4(POLE):c.3323A>C (p.His1108Pro)	POLE (H1108P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308388	NM_006231.4(POLE):c.6687G>A (p.Glu2229=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308387	NM_006231.4(POLE):c.5544C>T (p.Leu1848=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308386	NM_006231.4(POLE):c.4336G>A (p.Val1446Met)	POLE (V1446M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308385	NM_006231.4(POLE):c.3080C>G (p.Ser1027Cys)	POLE (S1027C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308384	NM_006231.4(POLE):c.6264T>C (p.Pro2088=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308382	NM_006231.4(POLE):c.3831G>T (p.Lys1277Asn)	POLE (K1277N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308381	NM_006231.4(POLE):c.998G>T (p.Cys333Phe)	POLE (C333F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308380	NM_006231.4(POLE):c.2417T>C (p.Leu806Pro)	POLE (L806P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308379	NM_006231.4(POLE):c.5314G>A (p.Gly1772Ser)	POLE (G1772S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308377	NM_006231.4(POLE):c.1729A>T (p.Thr577Ser)	POLE (T577S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308376	NM_006231.4(POLE):c.2931G>A (p.Gly977=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308375	NM_006231.4(POLE):c.4161C>T (p.Val1387=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3308374	NM_006231.4(POLE):c.6158A>T (p.Asp2053Val)	POLE (D2053V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308373	NM_006231.4(POLE):c.5524C>T (p.His1842Tyr)	POLE (H1842Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308372	NM_006231.4(POLE):c.901G>C (p.Asp301His)	POLE (D301H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308370	NM_006231.4(POLE):c.3172A>G (p.Lys1058Glu)	POLE (K1058E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308369	NM_006231.4(POLE):c.508A>G (p.Ile170Val)	POLE (I170V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308368	NM_006231.4(POLE):c.110G>C (p.Arg37Pro)	POLE (R37P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308367	NM_006231.4(POLE):c.3415A>G (p.Ser1139Gly)	POLE (S1139G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3308366	NM_006231.4(POLE):c.6797G>T (p.Gly2266Val)	POLE (G2266V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

<< First< Prev

Page of 10