"Ambry Genetics"[submitter] AND "NCAPD3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322756	NM_015261.3(NCAPD3):c.4435A>G (p.Lys1479Glu)	NCAPD3 (K1341E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407676	NM_015261.3(NCAPD3):c.4430G>C (p.Arg1477Thr)	NCAPD3 (R1477T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280949	NM_015261.3(NCAPD3):c.4426G>A (p.Ala1476Thr)	NCAPD3 (A1338T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525438	NM_015261.3(NCAPD3):c.4418G>T (p.Arg1473Leu)	NCAPD3 (R1335L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181193	NM_015261.3(NCAPD3):c.4355A>G (p.Asn1452Ser)	NCAPD3 (N1314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295974	NM_015261.3(NCAPD3):c.4332A>C (p.Lys1444Asn)	NCAPD3 (K1306N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377289	NM_015261.3(NCAPD3):c.4306C>T (p.Arg1436Trp)	NCAPD3 (R1298W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181181	NM_015261.3(NCAPD3):c.4294A>G (p.Ile1432Val)	NCAPD3 (I1294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386165	NM_015261.3(NCAPD3):c.4237A>G (p.Ile1413Val)	NCAPD3 (I1275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181175	NM_015261.3(NCAPD3):c.4222G>A (p.Val1408Met)	NCAPD3 (V1408M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523683	NM_015261.3(NCAPD3):c.4210G>A (p.Glu1404Lys)	NCAPD3 (E1404K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372783	NM_015261.3(NCAPD3):c.4110T>A (p.Ser1370Arg)	NCAPD3 (S1370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181164	NM_015261.3(NCAPD3):c.4084G>A (p.Val1362Met)	NCAPD3 (V1224M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355357	NM_015261.3(NCAPD3):c.4046T>C (p.Leu1349Pro)	NCAPD3 (L1211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383873	NM_015261.3(NCAPD3):c.4031C>T (p.Ala1344Val)	NCAPD3 (A1344V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298704	NM_015261.3(NCAPD3):c.3991A>C (p.Thr1331Pro)	NCAPD3 (T1193P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349888	NM_015261.3(NCAPD3):c.3916C>G (p.Pro1306Ala)	NCAPD3 (P1168A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181155	NM_015261.3(NCAPD3):c.3833C>T (p.Thr1278Met)	NCAPD3 (T1140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298705	NM_015261.3(NCAPD3):c.3667C>T (p.Leu1223Phe)	NCAPD3 (L1085F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388764	NM_015261.3(NCAPD3):c.3631G>T (p.Val1211Leu)	NCAPD3 (V1073L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181150	NM_015261.3(NCAPD3):c.3610A>G (p.Ile1204Val)	NCAPD3 (I1066V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375406	NM_015261.3(NCAPD3):c.3530C>T (p.Ala1177Val)	NCAPD3 (A1177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181145	NM_015261.3(NCAPD3):c.3524C>T (p.Ala1175Val)	NCAPD3 (A1175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547531	NM_015261.3(NCAPD3):c.3520A>G (p.Met1174Val)	NCAPD3 (M1036V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219184	NM_015261.3(NCAPD3):c.3513A>T (p.Glu1171Asp)	NCAPD3 (E1171D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181141	NM_015261.3(NCAPD3):c.3511G>A (p.Glu1171Lys)	NCAPD3 (E1033K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290103	NM_015261.3(NCAPD3):c.3496G>A (p.Asp1166Asn)	NCAPD3 (D1166N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364997	NM_015261.3(NCAPD3):c.3487C>G (p.Pro1163Ala)	NCAPD3 (P1025A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515239	NM_015261.3(NCAPD3):c.3475A>G (p.Met1159Val)	NCAPD3 (M1021V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181137	NM_015261.3(NCAPD3):c.3434C>T (p.Thr1145Met)	NCAPD3 (T1145M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283691	NM_015261.3(NCAPD3):c.3374C>G (p.Ala1125Gly)	NCAPD3 (A1125G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266396	NM_015261.3(NCAPD3):c.3341A>G (p.Asn1114Ser)	NCAPD3 (N1114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181132	NM_015261.3(NCAPD3):c.3340A>G (p.Asn1114Asp)	NCAPD3 (N976D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322560	NM_015261.3(NCAPD3):c.3338T>A (p.Phe1113Tyr)	NCAPD3 (F975Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331729	NM_015261.3(NCAPD3):c.3307C>A (p.Leu1103Ile)	NCAPD3 (L1103I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298699	NM_015261.3(NCAPD3):c.3247C>T (p.Arg1083Trp)	NCAPD3 (R1083W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410706	NM_015261.3(NCAPD3):c.3243G>C (p.Glu1081Asp)	NCAPD3 (E943D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243583	NM_015261.3(NCAPD3):c.3145C>A (p.Pro1049Thr)	NCAPD3 (P1049T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466158	NM_015261.3(NCAPD3):c.3144C>G (p.Asn1048Lys)	NCAPD3 (N910K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181119	NM_015261.3(NCAPD3):c.3091G>T (p.Asp1031Tyr)	LOC126861406, NCAPD3 (D1031Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181115	NM_015261.3(NCAPD3):c.3063T>A (p.Phe1021Leu)	LOC126861406, NCAPD3 (F1021L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181110	NM_015261.3(NCAPD3):c.3046T>G (p.Ser1016Ala)	LOC126861406, NCAPD3 (S878A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532792	NM_015261.3(NCAPD3):c.3010A>G (p.Asn1004Asp)	LOC126861406, NCAPD3 (N1004D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181102	NM_015261.3(NCAPD3):c.2998A>G (p.Ile1000Val)	NCAPD3 (I862V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298710	NM_015261.3(NCAPD3):c.2884A>G (p.Ile962Val)	NCAPD3 (I824V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298702	NM_015261.3(NCAPD3):c.2881G>A (p.Val961Ile)	NCAPD3 (V961I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532435	NM_015261.3(NCAPD3):c.2803G>A (p.Glu935Lys)	NCAPD3 (E797K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251372	NM_015261.3(NCAPD3):c.2750C>G (p.Ser917Cys)	NCAPD3 (S779C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181090	NM_015261.3(NCAPD3):c.2722C>A (p.Pro908Thr)	NCAPD3 (P770T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217101	NM_015261.3(NCAPD3):c.2651C>T (p.Ala884Val)	NCAPD3 (A746V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525851	NM_015261.3(NCAPD3):c.2621G>A (p.Arg874His)	NCAPD3 (R736H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363542	NM_015261.3(NCAPD3):c.2522A>G (p.Lys841Arg)	NCAPD3 (K703R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597367	NM_015261.3(NCAPD3):c.2500C>T (p.Arg834Cys)	NCAPD3 (R834C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181040	NM_015261.3(NCAPD3):c.2497C>T (p.His833Tyr)	NCAPD3 (H695Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603420	NM_015261.3(NCAPD3):c.2437C>G (p.Pro813Ala)	NCAPD3 (P675A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541630	NM_015261.3(NCAPD3):c.2342T>A (p.Val781Asp)	NCAPD3 (V643D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554302	NM_015261.3(NCAPD3):c.2325C>G (p.Asp775Glu)	NCAPD3 (D637E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411638	NM_015261.3(NCAPD3):c.2323G>C (p.Asp775His)	NCAPD3 (D775H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307938	NM_015261.3(NCAPD3):c.2320C>T (p.Arg774Trp)	NCAPD3 (R636W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737683	NM_015261.3(NCAPD3):c.2278T>G (p.Cys760Gly)	NCAPD3 (C760G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3180968	NM_015261.3(NCAPD3):c.2230A>G (p.Ile744Val)	NCAPD3 (I606V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180958	NM_015261.3(NCAPD3):c.2144C>T (p.Ser715Leu)	NCAPD3 (S715L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298706	NM_015261.3(NCAPD3):c.2135C>A (p.Thr712Lys)	NCAPD3 (T574K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298703	NM_015261.3(NCAPD3):c.2102C>T (p.Thr701Ile)	NCAPD3 (T563I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298701	NM_015261.3(NCAPD3):c.2048G>A (p.Arg683Gln)	NCAPD3 (R545Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322255	NM_015261.3(NCAPD3):c.2044A>C (p.Ser682Arg)	NCAPD3 (S544R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180949	NM_015261.3(NCAPD3):c.2000C>T (p.Ala667Val)	NCAPD3 (A529V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405016	NM_015261.3(NCAPD3):c.1984G>C (p.Asp662His)	NCAPD3 (D662H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180943	NM_015261.3(NCAPD3):c.1954C>T (p.Arg652Trp)	NCAPD3 (R652W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483993	NM_015261.3(NCAPD3):c.1952T>C (p.Ile651Thr)	NCAPD3 (I651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487901	NM_015261.3(NCAPD3):c.1901C>T (p.Thr634Ile)	NCAPD3 (T634I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298707	NM_015261.3(NCAPD3):c.1894G>A (p.Glu632Lys)	NCAPD3 (E494K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298708	NM_015261.3(NCAPD3):c.1891T>G (p.Cys631Gly)	NCAPD3 (C493G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319735	NM_015261.3(NCAPD3):c.1867G>A (p.Gly623Arg)	NCAPD3 (G623R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180936	NM_015261.3(NCAPD3):c.1840G>A (p.Val614Met)	NCAPD3 (V614M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298709	NM_015261.3(NCAPD3):c.1838G>A (p.Cys613Tyr)	NCAPD3 (C613Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456610	NM_015261.3(NCAPD3):c.1777G>T (p.Val593Leu)	NCAPD3 (V593L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298712	NM_015261.3(NCAPD3):c.1664C>A (p.Thr555Asn)	NCAPD3 (T417N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237647	NM_015261.3(NCAPD3):c.1609T>C (p.Ser537Pro)	NCAPD3 (S399P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180931	NM_015261.3(NCAPD3):c.1589G>A (p.Ser530Asn)	NCAPD3 (S392N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524922	NM_015261.3(NCAPD3):c.1561G>A (p.Glu521Lys)	NCAPD3 (E521K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380338	NM_015261.3(NCAPD3):c.1555C>T (p.Arg519Cys)	NCAPD3 (R381C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2298534	NM_015261.3(NCAPD3):c.1489G>C (p.Glu497Gln)	NCAPD3 (E359Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618916	NM_015261.3(NCAPD3):c.1445G>A (p.Ser482Asn)	NCAPD3 (S344N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556628	NM_015261.3(NCAPD3):c.1412G>A (p.Cys471Tyr)	NCAPD3 (C333Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401680	NM_015261.3(NCAPD3):c.1375A>G (p.Thr459Ala)	NCAPD3 (T321A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496419	NM_015261.3(NCAPD3):c.1282G>A (p.Asp428Asn)	NCAPD3 (D290N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180918	NM_015261.3(NCAPD3):c.1171G>A (p.Ala391Thr)	NCAPD3 (A253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237220	NM_015261.3(NCAPD3):c.1163G>A (p.Gly388Glu)	NCAPD3 (G250E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273968	NM_015261.3(NCAPD3):c.1115C>G (p.Thr372Ser)	NCAPD3 (T234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377288	NM_015261.3(NCAPD3):c.1018G>A (p.Ala340Thr)	NCAPD3 (A202T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029372	NM_015261.3(NCAPD3):c.1000G>A (p.Ala334Thr)	NCAPD3 (A334T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive +1 more	GUncertain significance
Select item 2549419	NM_015261.3(NCAPD3):c.952C>T (p.Arg318Cys)	NCAPD3 (R180C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259474	NM_015261.3(NCAPD3):c.952C>G (p.Arg318Gly)	NCAPD3 (R180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334182	NM_015261.3(NCAPD3):c.909G>A (p.Met303Ile)	NCAPD3 (M303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536476	NM_015261.3(NCAPD3):c.781G>C (p.Val261Leu)	NCAPD3 (V123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352670	NM_015261.3(NCAPD3):c.686A>G (p.Lys229Arg)	NCAPD3 (K91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511151	NM_015261.3(NCAPD3):c.646A>G (p.Ile216Val)	NCAPD3 (I216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392852	NM_015261.3(NCAPD3):c.619C>T (p.Arg207Trp)	NCAPD3 (R207W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387852	NM_015261.3(NCAPD3):c.572A>G (p.Asp191Gly)	NCAPD3 (D53G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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