"Ambry Genetics"[submitter] AND "APC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2280467	NM_005883.3(APC2):c.92A>C (p.Asp31Ala)	APC2 (D31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231294	NM_005883.3(APC2):c.248T>A (p.Ile83Asn)	APC2 (I83N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524043	NM_005883.3(APC2):c.278C>T (p.Pro93Leu)	APC2 (P93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221073	NM_005883.3(APC2):c.314C>T (p.Pro105Leu)	APC2 (P105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343572	NM_005883.3(APC2):c.322A>C (p.Ser108Arg)	APC2 (S108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343573	NM_005883.3(APC2):c.323G>T (p.Ser108Ile)	APC2 (S108I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 786663	NM_005883.3(APC2):c.334G>A (p.Gly112Ser)	APC2 (G112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2235348	NM_005883.3(APC2):c.373C>T (p.Arg125Trp)	APC2 (R125W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053571	NM_005883.3(APC2):c.407G>A (p.Arg136Gln)	APC2 (R136Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2614419	NM_005883.3(APC2):c.512A>C (p.His171Pro)	APC2 (H171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243146	NM_005883.3(APC2):c.599A>G (p.Glu200Gly)	APC2, LOC130062954 (E199G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620629	NM_005883.3(APC2):c.647C>T (p.Ala216Val)	APC2, LOC130062955 (A216V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300686	NM_005883.3(APC2):c.704A>C (p.Gln235Pro)	APC2 (Q234P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278132	NM_005883.3(APC2):c.794C>T (p.Thr265Ile)	APC2 (T264I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033038	NM_005883.3(APC2):c.796C>A (p.Pro266Thr)	APC2 (P266T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2247086	NM_005883.3(APC2):c.857G>A (p.Arg286His)	APC2 (R285H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336203	NM_005883.3(APC2):c.904C>T (p.Pro302Ser)	APC2 (P302S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1974923	NM_005883.3(APC2):c.985G>A (p.Gly329Arg)	APC2 (G329R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183209	NM_005883.3(APC2):c.1008_1016del (p.335PGA[1])	APC2	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2494337	NM_005883.3(APC2):c.1094G>T (p.Arg365Leu)	APC2 (R364L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346765	NM_005883.3(APC2):c.1104G>A (p.Met368Ile)	APC2 (M367I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208650	NM_005883.3(APC2):c.1195G>T (p.Gly399Cys)	APC2 (G398C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363932	NM_005883.3(APC2):c.1211C>T (p.Pro404Leu)	APC2 (P403L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560257	NM_005883.3(APC2):c.1216C>A (p.Pro406Thr)	APC2 (P405T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071300	NM_005883.3(APC2):c.1226C>T (p.Pro409Leu)	APC2 (P408L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2228697	NM_005883.3(APC2):c.1303+4_1303+5del	APC2	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2248338	NM_005883.3(APC2):c.1318G>A (p.Val440Met)	APC2 (V439M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347602	NM_005883.3(APC2):c.1388G>A (p.Arg463His)	APC2 (R462H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809952	NM_005883.3(APC2):c.1436C>T (p.Ala479Val)	APC2 (A478V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1010344	NM_005883.3(APC2):c.1463G>A (p.Arg488His)	APC2 (R487H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2152625	NM_005883.3(APC2):c.1465G>A (p.Gly489Ser)	APC2 (G489S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2560223	NM_005883.3(APC2):c.1471A>C (p.Met491Leu)	APC2 (M490L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396699	NM_005883.3(APC2):c.1483G>A (p.Val495Met)	APC2 (V495M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211966	NM_005883.3(APC2):c.1592C>T (p.Ala531Val)	APC2 (A530V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2280052	NM_005883.3(APC2):c.1600G>A (p.Val534Met)	APC2 (V533M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2281186	NM_005883.3(APC2):c.1601T>C (p.Val534Ala)	APC2 (V534A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520276	NM_005883.3(APC2):c.1621G>A (p.Val541Ile)	APC2 (V541I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288800	NM_005883.3(APC2):c.1627C>T (p.Arg543Trp)	APC2 (R543W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246922	NM_005883.3(APC2):c.1682C>G (p.Ser561Cys)	APC2 (S560C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279478	NM_005883.3(APC2):c.1729G>A (p.Ala577Thr)	APC2 (A576T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251001	NM_005883.3(APC2):c.1796G>A (p.Ser599Asn)	APC2 (S598N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2557914	NM_005883.3(APC2):c.1861C>G (p.Leu621Val)	APC2 (L620V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517717	NM_005883.3(APC2):c.1861C>T (p.Leu621Phe)	APC2 (L621F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279479	NM_005883.3(APC2):c.1870C>T (p.His624Tyr)	APC2 (H623Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2114939	NM_005883.3(APC2):c.2075G>A (p.Arg692His)	APC2 (R691H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2621342	NM_005883.3(APC2):c.2135G>A (p.Gly712Asp)	APC2 (G711D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809998	NM_005883.3(APC2):c.2181G>C (p.Glu727Asp)	APC2 (E726D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2336461	NM_005883.3(APC2):c.2240C>G (p.Pro747Arg)	APC2 (P747R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496110	NM_005883.3(APC2):c.2443G>A (p.Ala815Thr)	APC2 (A815T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593897	NM_005883.3(APC2):c.2459C>T (p.Pro820Leu)	APC2 (P819L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407163	NM_005883.3(APC2):c.2537A>G (p.Lys846Arg)	APC2 (K846R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235644	NM_005883.3(APC2):c.2689G>T (p.Gly897Cys)	APC2 (G896C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314047	NM_005883.3(APC2):c.2758G>A (p.Ala920Thr)	APC2 (A919T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623418	NM_005883.3(APC2):c.2830C>T (p.Pro944Ser)	APC2 (P944S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234571	NM_005883.3(APC2):c.2866G>A (p.Asp956Asn)	APC2 (D956N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532453	NM_005883.3(APC2):c.2879G>A (p.Gly960Glu)	APC2 (G959E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264656	NM_005883.3(APC2):c.2909A>G (p.Asp970Gly)	APC2 (D969G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522913	NM_005883.3(APC2):c.2917G>A (p.Gly973Ser)	APC2 (G972S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535378	NM_005883.3(APC2):c.2932C>T (p.Pro978Ser)	APC2 (P977S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354234	NM_005883.3(APC2):c.2957C>T (p.Ala986Val)	APC2 (A985V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039016	NM_005883.3(APC2):c.3019G>A (p.Gly1007Ser)	APC2 (G1007S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74 +2 more	GUncertain significance
Select item 2068732	NM_005883.3(APC2):c.3035G>A (p.Gly1012Asp)	APC2 (G1011D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2611997	NM_005883.3(APC2):c.3077G>A (p.Arg1026Gln)	APC2 (R1025Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339709	NM_005883.3(APC2):c.3155G>T (p.Ser1052Ile)	APC2 (S1051I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150312	NM_005883.3(APC2):c.3176C>A (p.Ala1059Glu)	APC2 (A1058E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2403167	NM_005883.3(APC2):c.3206G>A (p.Arg1069Gln)	APC2 (R1068Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227890	NM_005883.3(APC2):c.3364C>A (p.Leu1122Met)	APC2 (L1122M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513403	NM_005883.3(APC2):c.3400G>C (p.Gly1134Arg)	APC2 (G1134R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309834	NM_005883.3(APC2):c.3410T>C (p.Leu1137Pro)	APC2 (L1136P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345467	NM_005883.3(APC2):c.3443C>T (p.Ser1148Leu)	APC2 (S1147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616586	NM_005883.3(APC2):c.3610C>G (p.Gln1204Glu)	APC2 (Q1203E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741140	NM_005883.3(APC2):c.3656C>T (p.Ala1219Val)	APC2 (A1218V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2304135	NM_005883.3(APC2):c.3781G>A (p.Val1261Met)	APC2 (V1260M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271287	NM_005883.3(APC2):c.3784C>T (p.Arg1262Cys)	APC2 (R1262C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248800	NM_005883.3(APC2):c.3962G>A (p.Arg1321Gln)	APC2 (R1321Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038297	NM_005883.3(APC2):c.3973C>T (p.Pro1325Ser)	APC2 (P1324S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2548083	NM_005883.3(APC2):c.3976G>C (p.Ala1326Pro)	APC2 (A1325P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 978190	NM_005883.3(APC2):c.3979C>T (p.Pro1327Ser)	APC2 (P1326S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2286625	NM_005883.3(APC2):c.3985G>A (p.Gly1329Ser)	APC2 (G1328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2373816	NM_005883.3(APC2):c.3992G>A (p.Arg1331His)	APC2 (R1330H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2324001	NM_005883.3(APC2):c.4051G>A (p.Val1351Met)	APC2 (V1350M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319716	NM_005883.3(APC2):c.4061G>A (p.Arg1354Gln)	APC2 (R1354Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428838	NM_005883.3(APC2):c.4076C>T (p.Ala1359Val)	APC2 (A1358V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2535458	NM_005883.3(APC2):c.4078T>C (p.Ser1360Pro)	APC2 (S1359P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2139592	NM_005883.3(APC2):c.4139CGGCCC[1] (p.1378PA[2])	APC2	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2188772	NM_005883.3(APC2):c.4184G>A (p.Gly1395Asp)	APC2 (G1395D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2471218	NM_005883.3(APC2):c.4216C>G (p.Leu1406Val)	APC2 (L1406V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337937	NM_005883.3(APC2):c.4268C>A (p.Ala1423Glu)	APC2 (A1422E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2206309	NM_005883.3(APC2):c.4276C>G (p.Gln1426Glu)	APC2 (Q1425E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1980967	NM_005883.3(APC2):c.4321C>T (p.His1441Tyr)	APC2 (H1440Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2510530	NM_005883.3(APC2):c.4337G>C (p.Gly1446Ala)	APC2 (G1445A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164117	NM_005883.3(APC2):c.4380G>C (p.Lys1460Asn)	APC2 (K1460N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2544783	NM_005883.3(APC2):c.4396G>C (p.Glu1466Gln)	APC2 (E1465Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323605	NM_005883.3(APC2):c.4423G>T (p.Ala1475Ser)	APC2 (A1474S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621738	NM_005883.3(APC2):c.4424C>A (p.Ala1475Asp)	APC2 (A1475D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045056	NM_005883.3(APC2):c.4456C>G (p.Arg1486Gly)	APC2 (R1485G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2397174	NM_005883.3(APC2):c.4513G>A (p.Ala1505Thr)	APC2 (A1504T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403847	NM_005883.3(APC2):c.4613C>G (p.Thr1538Arg)	APC2 (T1538R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028956	NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro)	APC2 (R1539P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2181015	NM_005883.3(APC2):c.4660G>A (p.Ala1554Thr)	APC2 (A1554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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