"Ambry Genetics"[submitter] AND "AKAP12"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2355564	NM_005100.4(AKAP12):c.11G>A (p.Gly4Glu)	AKAP12 (G4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105121	NM_005100.4(AKAP12):c.44C>G (p.Pro15Arg)	AKAP12 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105192	NM_005100.4(AKAP12):c.85G>A (p.Gly29Ser)	AKAP12 (G29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280433	NM_005100.4(AKAP12):c.86G>C (p.Gly29Ala)	AKAP12 (G29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603689	NM_005100.4(AKAP12):c.146C>T (p.Ser49Leu)	AKAP12 (S49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551079	NM_005100.4(AKAP12):c.226C>T (p.Leu76Phe)	AKAP12 (L76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105001	NM_005100.4(AKAP12):c.257G>A (p.Gly86Glu)	AKAP12 (G86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105007	NM_005100.4(AKAP12):c.268G>C (p.Gly90Arg)	AKAP12 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105042	NM_005100.4(AKAP12):c.314C>T (p.Thr105Ile)	AKAP12 (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476349	NM_005100.4(AKAP12):c.328A>G (p.Arg110Gly)	AKAP12 (R12G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105064	NM_005100.4(AKAP12):c.344T>A (p.Val115Glu)	AKAP12 (V10E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540776	NM_005100.4(AKAP12):c.361G>A (p.Asp121Asn)	AKAP12 (D16N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292786	NM_005100.4(AKAP12):c.386C>T (p.Ala129Val)	AKAP12 (A129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280485	NM_005100.4(AKAP12):c.396C>T (p.His132=)	AKAP12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2596713	NM_005100.4(AKAP12):c.439G>A (p.Glu147Lys)	AKAP12 (E147K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352134	NM_005100.4(AKAP12):c.494C>A (p.Ser165Tyr)	AKAP12 (S67Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476812	NM_005100.4(AKAP12):c.499G>C (p.Ala167Pro)	AKAP12 (A62P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280453	NM_005100.4(AKAP12):c.560A>G (p.Lys187Arg)	AKAP12 (K82R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464126	NM_005100.4(AKAP12):c.748G>A (p.Ala250Thr)	AKAP12 (A145T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411434	NM_005100.4(AKAP12):c.755T>C (p.Ile252Thr)	AKAP12 (I252T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105190	NM_005100.4(AKAP12):c.799G>A (p.Glu267Lys)	AKAP12 (E169K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280443	NM_005100.4(AKAP12):c.888C>A (p.Phe296Leu)	AKAP12 (F296L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280464	NM_005100.4(AKAP12):c.916G>A (p.Gly306Ser)	AKAP12 (G208S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240972	NM_005100.4(AKAP12):c.923G>A (p.Arg308His)	AKAP12 (R210H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205169	NM_005100.4(AKAP12):c.949A>G (p.Lys317Glu)	AKAP12 (K317E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569605	NM_005100.4(AKAP12):c.967G>A (p.Ala323Thr)	AKAP12 (A323T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104897	NM_005100.4(AKAP12):c.1094C>T (p.Ala365Val)	AKAP12 (A267V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554694	NM_005100.4(AKAP12):c.1105C>T (p.Arg369Trp)	AKAP12 (R369W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224673	NM_005100.4(AKAP12):c.1184A>C (p.Lys395Thr)	AKAP12 (K395T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622703	NM_005100.4(AKAP12):c.1222A>G (p.Ile408Val)	AKAP12 (I303V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521420	NM_005100.4(AKAP12):c.1223T>C (p.Ile408Thr)	AKAP12 (I310T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275858	NM_005100.4(AKAP12):c.1228G>C (p.Val410Leu)	AKAP12 (V305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104919	NM_005100.4(AKAP12):c.1253A>G (p.Glu418Gly)	AKAP12 (E313G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104925	NM_005100.4(AKAP12):c.1285G>A (p.Glu429Lys)	AKAP12 (E331K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617536	NM_005100.4(AKAP12):c.1363C>G (p.Gln455Glu)	AKAP12 (Q350E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300195	NM_005100.4(AKAP12):c.1375C>T (p.Pro459Ser)	AKAP12 (P459S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459393	NM_005100.4(AKAP12):c.1417G>A (p.Gly473Arg)	AKAP12 (G375R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357819	NM_005100.4(AKAP12):c.1444C>G (p.Leu482Val)	AKAP12 (L377V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282796	NM_005100.4(AKAP12):c.1498G>T (p.Val500Leu)	AKAP12 (V402L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104943	NM_005100.4(AKAP12):c.1642A>T (p.Thr548Ser)	AKAP12 (T450S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104946	NM_005100.4(AKAP12):c.1687G>A (p.Gly563Ser)	AKAP12 (G563S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609376	NM_005100.4(AKAP12):c.1708C>G (p.Pro570Ala)	AKAP12 (P465A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608643	NM_005100.4(AKAP12):c.1720G>A (p.Glu574Lys)	AKAP12 (E476K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283269	NM_005100.4(AKAP12):c.1723G>A (p.Glu575Lys)	AKAP12 (E575K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550848	NM_005100.4(AKAP12):c.1735C>G (p.Leu579Val)	AKAP12 (L481V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495203	NM_005100.4(AKAP12):c.1744G>A (p.Gly582Ser)	AKAP12 (G582S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280412	NM_005100.4(AKAP12):c.1853C>T (p.Thr618Met)	AKAP12 (T513M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280506	NM_005100.4(AKAP12):c.1865G>A (p.Arg622His)	AKAP12 (R517H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600937	NM_005100.4(AKAP12):c.1895A>G (p.Glu632Gly)	AKAP12 (E527G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104964	NM_005100.4(AKAP12):c.1934C>G (p.Ser645Cys)	AKAP12 (S540C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539654	NM_005100.4(AKAP12):c.1989G>C (p.Glu663Asp)	AKAP12 (E565D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239506	NM_005100.4(AKAP12):c.2011C>T (p.Arg671Cys)	AKAP12 (R566C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543913	NM_005100.4(AKAP12):c.2032T>C (p.Ser678Pro)	AKAP12 (S573P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280249	NM_005100.4(AKAP12):c.2108G>T (p.Gly703Val)	AKAP12 (G605V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104974	NM_005100.4(AKAP12):c.2168C>T (p.Thr723Met)	AKAP12 (T618M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104978	NM_005100.4(AKAP12):c.2231C>T (p.Pro744Leu)	AKAP12 (P646L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104984	NM_005100.4(AKAP12):c.2309A>T (p.Lys770Ile)	AKAP12 (K672I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360512	NM_005100.4(AKAP12):c.2345A>C (p.Asp782Ala)	AKAP12 (D782A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622006	NM_005100.4(AKAP12):c.2396G>A (p.Gly799Asp)	AKAP12 (G701D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283528	NM_005100.4(AKAP12):c.2423A>G (p.Lys808Arg)	AKAP12 (K808R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521552	NM_005100.4(AKAP12):c.2504G>A (p.Gly835Glu)	AKAP12 (G730E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318617	NM_005100.4(AKAP12):c.2536G>A (p.Val846Met)	AKAP12 (V748M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105003	NM_005100.4(AKAP12):c.2617G>A (p.Glu873Lys)	AKAP12 (E768K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461991	NM_005100.4(AKAP12):c.2690C>T (p.Ala897Val)	AKAP12 (A897V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105016	NM_005100.4(AKAP12):c.2692G>A (p.Asp898Asn)	AKAP12 (D800N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105018	NM_005100.4(AKAP12):c.2699C>T (p.Thr900Met)	AKAP12 (T802M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467588	NM_005100.4(AKAP12):c.2815A>G (p.Arg939Gly)	AKAP12 (R834G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568946	NM_005100.4(AKAP12):c.2881C>T (p.Arg961Trp)	AKAP12 (R856W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105023	NM_005100.4(AKAP12):c.2905G>A (p.Ala969Thr)	AKAP12 (A864T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105025	NM_005100.4(AKAP12):c.2915C>A (p.Thr972Asn)	AKAP12 (T972N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553562	NM_005100.4(AKAP12):c.2959G>A (p.Ala987Thr)	AKAP12 (A882T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233625	NM_005100.4(AKAP12):c.2974G>A (p.Glu992Lys)	AKAP12 (E887K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218847	NM_005100.4(AKAP12):c.2998A>C (p.Thr1000Pro)	AKAP12 (T1000P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597693	NM_005100.4(AKAP12):c.3011C>T (p.Ser1004Leu)	AKAP12 (S899L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237099	NM_005100.4(AKAP12):c.3170C>G (p.Pro1057Arg)	AKAP12 (P959R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290687	NM_005100.4(AKAP12):c.3242C>A (p.Ala1081Asp)	AKAP12 (A1081D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377214	NM_005100.4(AKAP12):c.3269C>T (p.Thr1090Met)	AKAP12 (T992M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488929	NM_005100.4(AKAP12):c.3277G>A (p.Val1093Met)	AKAP12 (V995M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455251	NM_005100.4(AKAP12):c.3388A>G (p.Ile1130Val)	AKAP12 (I1025V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280522	NM_005100.4(AKAP12):c.3475C>T (p.Pro1159Ser)	AKAP12 (P1054S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217944	NM_005100.4(AKAP12):c.3476C>T (p.Pro1159Leu)	AKAP12 (P1061L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528397	NM_005100.4(AKAP12):c.3605C>G (p.Ser1202Cys)	AKAP12 (S1097C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105072	NM_005100.4(AKAP12):c.3622G>A (p.Gly1208Ser)	AKAP12 (G1103S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105075	NM_005100.4(AKAP12):c.3659G>A (p.Arg1220Lys)	AKAP12 (R1115K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309866	NM_005100.4(AKAP12):c.3740A>G (p.Asp1247Gly)	AKAP12 (D1247G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204551	NM_005100.4(AKAP12):c.3748G>A (p.Val1250Met)	AKAP12 (V1152M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105083	NM_005100.4(AKAP12):c.3763G>A (p.Val1255Ile)	AKAP12 (V1157I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105086	NM_005100.4(AKAP12):c.3818A>C (p.Glu1273Ala)	AKAP12 (E1168A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105090	NM_005100.4(AKAP12):c.3865G>A (p.Asp1289Asn)	AKAP12 (D1184N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620756	NM_005100.4(AKAP12):c.3869C>T (p.Thr1290Ile)	AKAP12 (T1185I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105097	NM_005100.4(AKAP12):c.3880G>C (p.Val1294Leu)	AKAP12 (V1189L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105099	NM_005100.4(AKAP12):c.4051A>G (p.Thr1351Ala)	AKAP12 (T1253A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380215	NM_005100.4(AKAP12):c.4160A>T (p.Lys1387Met)	AKAP12 (K1282M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615977	NM_005100.4(AKAP12):c.4307A>C (p.Asn1436Thr)	AKAP12 (N1331T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347865	NM_005100.4(AKAP12):c.4383T>G (p.Asn1461Lys)	AKAP12 (N1461K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479614	NM_005100.4(AKAP12):c.4403C>G (p.Pro1468Arg)	AKAP12 (P1363R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280474	NM_005100.4(AKAP12):c.4448C>T (p.Ser1483Leu)	AKAP12 (S1385L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105119	NM_005100.4(AKAP12):c.4459A>G (p.Ile1487Val)	AKAP12 (I1389V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549974	NM_005100.4(AKAP12):c.4633A>C (p.Lys1545Gln)	AKAP12 (K1545Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364595	NM_005100.4(AKAP12):c.4637G>C (p.Ser1546Thr)	AKAP12 (S1441T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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