NCKAP5L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2514598	NM_001037806.4(NCKAP5L):c.3932C>T (p.Pro1311Leu)	NCKAP5L (P1311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289723	NM_001037806.4(NCKAP5L):c.3901G>A (p.Glu1301Lys)	NCKAP5L (E1301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217322	NM_001037806.4(NCKAP5L):c.3841C>T (p.Pro1281Ser)	NCKAP5L (P1281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183049	NM_001037806.4(NCKAP5L):c.3772G>A (p.Gly1258Arg)	NCKAP5L (G1258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394891	NM_001037806.4(NCKAP5L):c.3757C>A (p.Pro1253Thr)	NCKAP5L (P1253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331532	NM_001037806.4(NCKAP5L):c.3722C>A (p.Ala1241Glu)	NCKAP5L (A1241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513677	NM_001037806.4(NCKAP5L):c.3596C>T (p.Pro1199Leu)	NCKAP5L (P1199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298793	NM_001037806.4(NCKAP5L):c.3592T>C (p.Phe1198Leu)	NCKAP5L (F1198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327788	NM_001037806.4(NCKAP5L):c.3532C>T (p.Arg1178Trp)	NCKAP5L (R1178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514085	NM_001037806.4(NCKAP5L):c.3512G>A (p.Arg1171His)	NCKAP5L (R1171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366939	NM_001037806.4(NCKAP5L):c.3487C>T (p.Pro1163Ser)	NCKAP5L (P1163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183015	NM_001037806.4(NCKAP5L):c.3464C>T (p.Pro1155Leu)	NCKAP5L (P1155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183012	NM_001037806.4(NCKAP5L):c.3464C>G (p.Pro1155Arg)	NCKAP5L (P1155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183009	NM_001037806.4(NCKAP5L):c.3452G>A (p.Arg1151Gln)	NCKAP5L (R1151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298789	NM_001037806.4(NCKAP5L):c.3449C>T (p.Pro1150Leu)	NCKAP5L (P1150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183006	NM_001037806.4(NCKAP5L):c.3442A>C (p.Lys1148Gln)	NCKAP5L (K1148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364626	NM_001037806.4(NCKAP5L):c.3292C>G (p.Pro1098Ala)	NCKAP5L (P1098A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399609	NM_001037806.4(NCKAP5L):c.3281G>A (p.Arg1094Gln)	NCKAP5L (R1094Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182997	NM_001037806.4(NCKAP5L):c.3271C>T (p.Pro1091Ser)	NCKAP5L (P1091S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182994	NM_001037806.4(NCKAP5L):c.3241G>A (p.Gly1081Arg)	NCKAP5L (G1081R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263913	NM_001037806.4(NCKAP5L):c.3164C>T (p.Pro1055Leu)	NCKAP5L (P1055L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597704	NM_001037806.4(NCKAP5L):c.3142C>T (p.Pro1048Ser)	NCKAP5L (P1048S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314369	NM_001037806.4(NCKAP5L):c.3038G>C (p.Gly1013Ala)	NCKAP5L (G1013A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298801	NM_001037806.4(NCKAP5L):c.3035A>C (p.Gln1012Pro)	NCKAP5L (Q1012P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182987	NM_001037806.4(NCKAP5L):c.3031G>A (p.Val1011Met)	NCKAP5L (V1011M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182985	NM_001037806.4(NCKAP5L):c.3008G>C (p.Gly1003Ala)	NCKAP5L (G1003A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298786	NM_001037806.4(NCKAP5L):c.2996G>A (p.Gly999Asp)	NCKAP5L (G999D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379722	NM_001037806.4(NCKAP5L):c.2986C>T (p.Arg996Trp)	NCKAP5L (R996W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331800	NM_001037806.4(NCKAP5L):c.2980C>T (p.Arg994Trp)	NCKAP5L (R994W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403472	NM_001037806.4(NCKAP5L):c.2938C>T (p.Arg980Trp)	NCKAP5L (R980W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557694	NM_001037806.4(NCKAP5L):c.2915T>C (p.Met972Thr)	NCKAP5L (M972T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319606	NM_001037806.4(NCKAP5L):c.2863A>G (p.Lys955Glu)	NCKAP5L (K955E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182959	NM_001037806.4(NCKAP5L):c.2855G>A (p.Arg952Lys)	NCKAP5L (R952K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182956	NM_001037806.4(NCKAP5L):c.2852G>A (p.Arg951Gln)	NCKAP5L (R951Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182948	NM_001037806.4(NCKAP5L):c.2803A>G (p.Thr935Ala)	NCKAP5L (T935A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460704	NM_001037806.4(NCKAP5L):c.2798G>A (p.Arg933His)	NCKAP5L (R933H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182941	NM_001037806.4(NCKAP5L):c.2788G>T (p.Ala930Ser)	NCKAP5L (A930S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224771	NM_001037806.4(NCKAP5L):c.2752G>A (p.Ala918Thr)	NCKAP5L (A918T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273199	NM_001037806.4(NCKAP5L):c.2748C>G (p.Ser916Arg)	NCKAP5L (S916R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472313	NM_001037806.4(NCKAP5L):c.2719G>A (p.Ala907Thr)	NCKAP5L (A907T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403247	NM_001037806.4(NCKAP5L):c.2618G>A (p.Gly873Asp)	NCKAP5L (G873D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367783	NM_001037806.4(NCKAP5L):c.2617G>A (p.Gly873Ser)	NCKAP5L (G873S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386417	NM_001037806.4(NCKAP5L):c.2612G>A (p.Ser871Asn)	NCKAP5L (S871N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231230	NM_001037806.4(NCKAP5L):c.2584C>T (p.Pro862Ser)	NCKAP5L (P862S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302835	NM_001037806.4(NCKAP5L):c.2582C>T (p.Thr861Ile)	NCKAP5L (T861I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294735	NM_001037806.4(NCKAP5L):c.2545C>T (p.Pro849Ser)	NCKAP5L (P849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280950	NM_001037806.4(NCKAP5L):c.2540G>A (p.Gly847Asp)	NCKAP5L (G847D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298785	NM_001037806.4(NCKAP5L):c.2492G>T (p.Gly831Val)	NCKAP5L (G831V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299137	NM_001037806.4(NCKAP5L):c.2488C>A (p.Pro830Thr)	NCKAP5L (P830T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298797	NM_001037806.4(NCKAP5L):c.2432C>T (p.Pro811Leu)	NCKAP5L (P811L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304486	NM_001037806.4(NCKAP5L):c.2407A>G (p.Ser803Gly)	NCKAP5L (S803G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339556	NM_001037806.4(NCKAP5L):c.2402C>T (p.Ala801Val)	NCKAP5L (A801V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334822	NM_001037806.4(NCKAP5L):c.2401G>T (p.Ala801Ser)	NCKAP5L (A801S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288492	NM_001037806.4(NCKAP5L):c.2380C>G (p.Pro794Ala)	NCKAP5L (P794A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558618	NM_001037806.4(NCKAP5L):c.2375G>A (p.Arg792His)	NCKAP5L (R792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298792	NM_001037806.4(NCKAP5L):c.2366A>C (p.Gln789Pro)	NCKAP5L (Q789P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182910	NM_001037806.4(NCKAP5L):c.2264A>G (p.His755Arg)	NCKAP5L (H755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182908	NM_001037806.4(NCKAP5L):c.2261C>G (p.Ser754Cys)	NCKAP5L (S754C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599389	NM_001037806.4(NCKAP5L):c.2249G>A (p.Arg750Gln)	NCKAP5L (R750Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716328	NM_001037806.4(NCKAP5L):c.2244G>A (p.Gly748=)	NCKAP5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182900	NM_001037806.4(NCKAP5L):c.2179G>T (p.Gly727Trp)	NCKAP5L (G727W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182897	NM_001037806.4(NCKAP5L):c.2176C>T (p.Arg726Trp)	NCKAP5L (R726W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464709	NM_001037806.4(NCKAP5L):c.2167G>C (p.Gly723Arg)	NCKAP5L (G723R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319358	NM_001037806.4(NCKAP5L):c.2124G>A (p.Met708Ile)	NCKAP5L (M708I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298795	NM_001037806.4(NCKAP5L):c.2111G>A (p.Ser704Asn)	NCKAP5L (S704N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182890	NM_001037806.4(NCKAP5L):c.2086C>T (p.Arg696Trp)	NCKAP5L (R696W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461808	NM_001037806.4(NCKAP5L):c.2077G>A (p.Glu693Lys)	NCKAP5L (E693K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784238	NM_001037806.4(NCKAP5L):c.2075C>T (p.Thr692Ile)	NCKAP5L (T692I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454407	NM_001037806.4(NCKAP5L):c.2032G>A (p.Ala678Thr)	NCKAP5L (A678T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295009	NM_001037806.4(NCKAP5L):c.1904G>A (p.Arg635His)	NCKAP5L (R635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568704	NM_001037806.4(NCKAP5L):c.1853C>G (p.Pro618Arg)	NCKAP5L (P618R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182887	NM_001037806.4(NCKAP5L):c.1800C>G (p.Ser600Arg)	NCKAP5L (S600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311988	NM_001037806.4(NCKAP5L):c.1772T>C (p.Val591Ala)	NCKAP5L (V591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298799	NM_001037806.4(NCKAP5L):c.1678C>A (p.Leu560Met)	NCKAP5L (L560M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455493	NM_001037806.4(NCKAP5L):c.1677T>G (p.Ile559Met)	NCKAP5L (I559M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276438	NM_001037806.4(NCKAP5L):c.1675A>G (p.Ile559Val)	NCKAP5L (I559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342429	NM_001037806.4(NCKAP5L):c.1628C>T (p.Ser543Phe)	NCKAP5L (S543F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182872	NM_001037806.4(NCKAP5L):c.1613C>T (p.Pro538Leu)	NCKAP5L (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546344	NM_001037806.4(NCKAP5L):c.1613C>A (p.Pro538Gln)	NCKAP5L (P538Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554093	NM_001037806.4(NCKAP5L):c.1588C>G (p.Pro530Ala)	NCKAP5L (P530A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486299	NM_001037806.4(NCKAP5L):c.1547C>T (p.Ala516Val)	NCKAP5L (A516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713127	NM_001037806.4(NCKAP5L):c.1482C>T (p.Asp494=)	NCKAP5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182867	NM_001037806.4(NCKAP5L):c.1454G>A (p.Arg485Gln)	NCKAP5L (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182866	NM_001037806.4(NCKAP5L):c.1451C>T (p.Ser484Leu)	NCKAP5L (S484L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547471	NM_001037806.4(NCKAP5L):c.1438C>T (p.Leu480Phe)	NCKAP5L (L480F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313654	NM_001037806.4(NCKAP5L):c.1390A>G (p.Thr464Ala)	NCKAP5L (T464A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369203	NM_001037806.4(NCKAP5L):c.1253G>A (p.Gly418Asp)	NCKAP5L (G418D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182852	NM_001037806.4(NCKAP5L):c.1133A>C (p.Lys378Thr)	NCKAP5L (K378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182848	NM_001037806.4(NCKAP5L):c.1112C>T (p.Ser371Phe)	NCKAP5L (S371F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182843	NM_001037806.4(NCKAP5L):c.1097C>T (p.Ala366Val)	NCKAP5L (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298791	NM_001037806.4(NCKAP5L):c.1048C>T (p.Leu350Phe)	NCKAP5L (L350F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298800	NM_001037806.4(NCKAP5L):c.1036G>A (p.Ala346Thr)	NCKAP5L (A346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298790	NM_001037806.4(NCKAP5L):c.986G>A (p.Gly329Asp)	NCKAP5L (G329D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298787	NM_001037806.4(NCKAP5L):c.926A>G (p.Asn309Ser)	NCKAP5L (N309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550497	NM_001037806.4(NCKAP5L):c.739G>T (p.Gly247Cys)	NCKAP5L (G247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235473	NM_001037806.4(NCKAP5L):c.721G>C (p.Ala241Pro)	NCKAP5L (A241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183078	NM_001037806.4(NCKAP5L):c.695C>T (p.Pro232Leu)	NCKAP5L (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256165	NM_001037806.4(NCKAP5L):c.655C>T (p.Pro219Ser)	NCKAP5L (P219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298794	NM_001037806.4(NCKAP5L):c.554G>A (p.Arg185Gln)	NCKAP5L (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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