C3554460[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 405648	NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn)	POLE (S2022N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 403332	NM_006231.4(POLE):c.5636G>A (p.Arg1879His)	POLE (R1879H)	Single nucleotide variant (missense variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GConflicting classifications of pathogenicity
Select item 405839	NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser)	POLE (G1668S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 540642	NM_006231.4(POLE):c.4558A>G (p.Ser1520Gly)	POLE (S1520G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 240525	NM_006231.4(POLE):c.4523G>A (p.Arg1508His)	POLE (R1508H)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
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 405803	NM_006231.4(POLE):c.3311C>T (p.Thr1104Met)	POLE (T1104M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 240461	NM_006231.4(POLE):c.3245G>A (p.Arg1082His)	POLE (R1082H)	Single nucleotide variant (missense variant)	Neuroepithelial neoplasm +7 more	GConflicting classifications of pathogenicity
Select item 240439	NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)	POLE (N882S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 405863	NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)	POLE (F837S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
Select item 473508	NM_006231.4(POLE):c.2090C>A (p.Pro697His)	POLE (P697H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 221157	NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys)	POLE (Y623C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GUncertain significance
Select item 240394	NM_006231.4(POLE):c.1455T>G (p.Ile485Met)	POLE (I485M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 650066	NM_006231.4(POLE):c.1453A>G (p.Ile485Val)	POLE (I485V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 473457	NM_006231.4(POLE):c.1447A>G (p.Thr483Ala)	POLE (T483A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 484443	NM_006231.4(POLE):c.1439C>T (p.Ala480Val)	POLE (A480V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 235886	NM_006231.4(POLE):c.1420G>A (p.Val474Ile)	POLE (V474I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 484462	NM_006231.4(POLE):c.1411A>G (p.Met471Val)	POLE (M471V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 560020	NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)	POLE (T466A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1054055	NM_006231.4(POLE):c.1393G>T (p.Ala465Ser)	POLE (A465S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 580067	NM_006231.4(POLE):c.1384G>A (p.Asp462Asn)	POLE (D462N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 405748	NM_006231.4(POLE):c.1378G>A (p.Val460Met)	POLE (V460M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 240390	NM_006231.4(POLE):c.1370C>T (p.Thr457Met)	POLE (T457M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 473453	NM_006231.4(POLE):c.1354C>A (p.Pro452Thr)	POLE (P452T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 405790	NM_006231.4(POLE):c.1346C>T (p.Thr449Met)	POLE (T449M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 473451	NM_006231.4(POLE):c.1339A>C (p.Met447Leu)	POLE (M447L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 421572	NM_006231.4(POLE):c.1336C>T (p.Arg446Trp)	POLE (R446W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2562953	NM_006231.4(POLE):c.1324G>C (p.Glu442Gln)	POLE (E442Q)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 252659	NM_006231.4(POLE):c.1309G>A (p.Val437Met)	POLE (V437M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 473447	NM_006231.4(POLE):c.1294C>G (p.Leu432Val)	POLE (L432V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 405877	NM_006231.4(POLE):c.1282G>A (p.Ala428Thr)	POLE (A428T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 240385	NM_006231.4(POLE):c.1280C>T (p.Ala427Val)	POLE (A427V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 484437	NM_006231.4(POLE):c.1277C>T (p.Ala426Val)	POLE (A426V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 224587	NM_006231.4(POLE):c.1274A>G (p.Lys425Arg)	POLE (K425R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2677940	NM_006231.4(POLE):c.1268A>G (p.Asn423Ser)	POLE (N423S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 240384	NM_006231.4(POLE):c.1264C>T (p.His422Tyr)	POLE (H422Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 405643	NM_006231.4(POLE):c.1232T>C (p.Val411Ala)	POLE (V411A)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 473442	NM_006231.4(POLE):c.1193A>G (p.Lys398Arg)	POLE (K398R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 246477	NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)	POLE (G395E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1692911	NM_006231.4(POLE):c.1182G>C (p.Gln394His)	POLE (Q394H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 801256	NM_006231.4(POLE):c.1181A>G (p.Gln394Arg)	POLE (Q394R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 240381	NM_006231.4(POLE):c.1175A>G (p.Asp392Gly)	POLE (D392G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 423336	NM_006231.4(POLE):c.1156G>A (p.Glu386Lys)	POLE (E386K)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 246396	NM_006231.4(POLE):c.1147A>G (p.Met383Val)	POLE (M383V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2499962	NM_006231.4(POLE):c.1142T>A (p.Leu381Gln)	POLE (L381Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 473437	NM_006231.4(POLE):c.1138G>A (p.Gly380Ser)	POLE (G380S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 240378	NM_006231.4(POLE):c.1138G>T (p.Gly380Cys)	POLE (G380C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 1729536	NM_006231.4(POLE):c.1135C>T (p.His379Tyr)	POLE (H379Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 484514	NM_006231.4(POLE):c.1129G>A (p.Ala377Thr)	POLE (A377T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 540681	NM_006231.4(POLE):c.1124G>A (p.Arg375Gln)	POLE (R375Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 569231	NM_006231.4(POLE):c.1123C>T (p.Arg375Trp)	POLE (R375W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 423238	NM_006231.4(POLE):c.1108C>A (p.Pro370Thr)	POLE (P370T)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 838751	NM_006231.4(POLE):c.1078G>A (p.Val360Ile)	POLE (V360I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 940164	NM_006231.4(POLE):c.1070C>T (p.Thr357Ile)	POLE (T357I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 643276	NM_006231.4(POLE):c.1069A>G (p.Thr357Ala)	POLE (T357A)	Single nucleotide variant (missense variant)	not provided +2 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 372024	NM_006231.4(POLE):c.1055A>C (p.Gln352Pro)	POLE (Q352P)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 484505	NM_006231.4(POLE):c.1041G>T (p.Trp347Cys)	POLE (W347C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1434111	NM_006231.4(POLE):c.1025A>G (p.His342Arg)	POLE (H342R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 1366612	NM_006231.4(POLE):c.1025A>T (p.His342Leu)	POLE (H342L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 405664	NM_006231.4(POLE):c.1021G>C (p.Ala341Pro)	POLE (A341P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 405828	NM_006231.4(POLE):c.1016A>T (p.Asp339Val)	POLE (D339V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2677939	NM_006231.4(POLE):c.1008T>A (p.Asn336Lys)	POLE (N336K)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 3240169	NM_006231.4(POLE):c.1004T>C (p.Phe335Ser)	POLE (F335S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 540673	NM_006231.4(POLE):c.983A>T (p.Tyr328Phe)	POLE (Y328F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 473846	NM_006231.4(POLE):c.974A>G (p.Lys325Arg)	POLE (K325R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1505483	NM_006231.4(POLE):c.968C>A (p.Thr323Asn)	POLE (T323N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 405617	NM_006231.4(POLE):c.950T>C (p.Ile317Thr)	POLE (I317T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 540709	NM_006231.4(POLE):c.936T>G (p.Ile312Met)	POLE (I312M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 405777	NM_006231.4(POLE):c.926A>G (p.Asn309Ser)	POLE (N309S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677937	NM_006231.4(POLE):c.923C>T (p.Thr308Ile)	POLE (T308I)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 484515	NM_006231.4(POLE):c.916C>T (p.Leu306Phe)	POLE (L306F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 560852	NM_006231.4(POLE):c.909G>C (p.Gln303His)	POLE (Q303H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 405730	NM_006231.4(POLE):c.902A>G (p.Asp301Gly)	POLE (D301G)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 405876	NM_006231.4(POLE):c.901G>A (p.Asp301Asn)	POLE (D301N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 473838	NM_006231.4(POLE):c.895A>G (p.Met299Val)	POLE (M299V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677938	NM_006231.4(POLE):c.883A>G (p.Met295Val)	POLE (M295V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 484499	NM_006231.4(POLE):c.882G>A (p.Met294Ile)	POLE (M294I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1390111	NM_006231.4(POLE):c.878T>C (p.Ile293Thr)	POLE (I293T)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 650155	NM_006231.4(POLE):c.876G>T (p.Gln292His)	POLE (Q292H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 439282	NM_006231.4(POLE):c.863C>G (p.Ala288Gly)	POLE (A288G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 405725	NM_006231.4(POLE):c.850A>G (p.Lys284Glu)	POLE (K284E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 224588	NM_006231.4(POLE):c.844C>T (p.Pro282Ser)	POLE (P282S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 484477	NM_006231.4(POLE):c.840A>C (p.Lys280Asn)	POLE (K280N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 581620	NM_006231.4(POLE):c.826A>G (p.Ile276Val)	POLE (I276V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 484582	NM_006231.4(POLE):c.825C>G (p.Asp275Glu)	POLE (D275E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1001669	NM_006231.4(POLE):c.811G>A (p.Val271Ile)	POLE (V271I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 653768	NM_006231.4(POLE):c.805C>G (p.Pro269Ala)	POLE (P269A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 850330	NM_006231.4(POLE):c.686A>C (p.His229Pro)	POLE (H229P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 413567	NM_006231.4(POLE):c.391G>T (p.Val131Leu)	POLE (V131L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 413598	NM_006231.4(POLE):c.155G>A (p.Arg52Gln)	POLE (R52Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 240396	NM_006231.4(POLE):c.154C>T (p.Arg52Trp)	POLE (R52W)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 92