NCKAP5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 2265820	NM_207363.3(NCKAP5):c.5704G>A (p.Ala1902Thr)	NCKAP5 (A1902T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236995	NM_207363.3(NCKAP5):c.5684T>C (p.Leu1895Ser)	NCKAP5 (L1895S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342088	NM_207363.3(NCKAP5):c.5572G>A (p.Gly1858Arg)	NCKAP5 (G1858R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723820	NM_207363.3(NCKAP5):c.5561T>A (p.Val1854Asp)	NCKAP5 (V1854D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3182822	NM_207363.3(NCKAP5):c.5537C>T (p.Pro1846Leu)	NCKAP5 (P1846L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298776	NM_207363.3(NCKAP5):c.5501C>T (p.Ser1834Leu)	NCKAP5 (S515L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182820	NM_207363.3(NCKAP5):c.5492C>T (p.Thr1831Ile)	NCKAP5 (T1831I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542274	NM_207363.3(NCKAP5):c.5491A>G (p.Thr1831Ala)	NCKAP5 (T512A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780357	NM_207363.3(NCKAP5):c.5419C>T (p.Arg1807Cys)	NCKAP5 (R1807C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3182816	NM_207363.3(NCKAP5):c.5359A>G (p.Ile1787Val)	NCKAP5 (I468V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298781	NM_207363.3(NCKAP5):c.5357C>T (p.Ala1786Val)	NCKAP5 (A467V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182812	NM_207363.3(NCKAP5):c.5356G>A (p.Ala1786Thr)	NCKAP5 (A1786T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182806	NM_207363.3(NCKAP5):c.5335G>A (p.Gly1779Ser)	NCKAP5 (G1779S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298784	NM_207363.3(NCKAP5):c.5222A>G (p.Gln1741Arg)	NCKAP5 (Q1741R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360364	NM_207363.3(NCKAP5):c.5209C>T (p.Arg1737Cys)	NCKAP5 (R418C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298777	NM_207363.3(NCKAP5):c.5204C>G (p.Thr1735Arg)	NCKAP5 (T1735R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368746	NM_207363.3(NCKAP5):c.5189C>T (p.Ser1730Leu)	NCKAP5 (S1730L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243796	NM_207363.3(NCKAP5):c.5127A>G (p.Ile1709Met)	NCKAP5 (I1709M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182791	NM_207363.3(NCKAP5):c.5126T>C (p.Ile1709Thr)	NCKAP5 (I390T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460800	NM_207363.3(NCKAP5):c.5117G>A (p.Ser1706Asn)	NCKAP5 (S1706N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406562	NM_207363.3(NCKAP5):c.5053A>C (p.Lys1685Gln)	NCKAP5 (K1685Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608040	NM_207363.3(NCKAP5):c.5042A>T (p.Asp1681Val)	NCKAP5 (D1681V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726661	NM_207363.3(NCKAP5):c.5006A>T (p.Asn1669Ile)	NCKAP5 (N1669I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 770870	NM_207363.3(NCKAP5):c.4971C>T (p.Gly1657=)	NCKAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3182778	NM_207363.3(NCKAP5):c.4856C>T (p.Thr1619Met)	NCKAP5 (T1619M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781820	NM_207363.3(NCKAP5):c.4838C>T (p.Thr1613Met)	NCKAP5 (T1613M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2269866	NM_207363.3(NCKAP5):c.4831T>C (p.Cys1611Arg)	NCKAP5 (C1611R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530615	NM_207363.3(NCKAP5):c.4820G>T (p.Ser1607Ile)	NCKAP5 (S1607I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335366	NM_207363.3(NCKAP5):c.4817A>G (p.His1606Arg)	NCKAP5 (H1606R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350566	NM_207363.3(NCKAP5):c.4802A>G (p.Glu1601Gly)	NCKAP5 (E1601G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266462	NM_207363.3(NCKAP5):c.4798A>G (p.Ile1600Val)	NCKAP5 (I1600V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708528	NM_207363.3(NCKAP5):c.4763G>A (p.Arg1588Gln)	NCKAP5 (R1588Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2362222	NM_207363.3(NCKAP5):c.4741G>A (p.Gly1581Ser)	NCKAP5 (G1581S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711851	NM_207363.3(NCKAP5):c.4724C>T (p.Ala1575Val)	NCKAP5 (A1575V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2239797	NM_207363.3(NCKAP5):c.4705A>T (p.Ile1569Phe)	NCKAP5 (I1569F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182738	NM_207363.3(NCKAP5):c.4610C>G (p.Ala1537Gly)	NCKAP5 (A1537G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182733	NM_207363.3(NCKAP5):c.4414A>G (p.Ile1472Val)	NCKAP5 (I1472V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182729	NM_207363.3(NCKAP5):c.4373C>T (p.Ala1458Val)	NCKAP5 (A1458V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295631	NM_207363.3(NCKAP5):c.4297C>A (p.His1433Asn)	NCKAP5 (H1433N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224478	NM_207363.3(NCKAP5):c.4291A>G (p.Thr1431Ala)	NCKAP5 (T1431A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359498	NM_207363.3(NCKAP5):c.4274T>A (p.Leu1425Gln)	NCKAP5 (L1425Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182716	NM_207363.3(NCKAP5):c.4249A>C (p.Thr1417Pro)	NCKAP5 (T1417P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371289	NM_207363.3(NCKAP5):c.4219C>T (p.Pro1407Ser)	NCKAP5 (P1407S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291894	NM_207363.3(NCKAP5):c.4196C>G (p.Ala1399Gly)	NCKAP5 (A1399G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298782	NM_207363.3(NCKAP5):c.4169C>G (p.Ala1390Gly)	NCKAP5 (A1390G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182705	NM_207363.3(NCKAP5):c.4066G>A (p.Gly1356Ser)	NCKAP5 (G1356S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298773	NM_207363.3(NCKAP5):c.4058G>A (p.Gly1353Glu)	NCKAP5 (G1353E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248468	NM_207363.3(NCKAP5):c.4042G>A (p.Gly1348Arg)	NCKAP5 (G1348R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2260118	NM_207363.3(NCKAP5):c.3971A>G (p.Asn1324Ser)	NCKAP5 (N1324S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2304392	NM_207363.3(NCKAP5):c.3953C>T (p.Ser1318Phe)	NCKAP5 (S1318F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470242	NM_207363.3(NCKAP5):c.3941G>A (p.Arg1314Gln)	NCKAP5 (R1314Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223388	NM_207363.3(NCKAP5):c.3929A>G (p.Asn1310Ser)	NCKAP5 (N1310S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467567	NM_207363.3(NCKAP5):c.3925G>A (p.Gly1309Ser)	NCKAP5 (G1309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400767	NM_207363.3(NCKAP5):c.3893G>A (p.Arg1298His)	NCKAP5 (R1298H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341610	NM_207363.3(NCKAP5):c.3874G>A (p.Glu1292Lys)	NCKAP5 (E1292K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271701	NM_207363.3(NCKAP5):c.3832T>C (p.Phe1278Leu)	NCKAP5 (F1278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390453	NM_207363.3(NCKAP5):c.3761C>T (p.Ser1254Phe)	NCKAP5 (S1254F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773648	NM_207363.3(NCKAP5):c.3750C>G (p.Ser1250=)	NCKAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2293055	NM_207363.3(NCKAP5):c.3736G>T (p.Val1246Leu)	NCKAP5 (V1246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182667	NM_207363.3(NCKAP5):c.3719G>T (p.Ser1240Ile)	NCKAP5 (S1240I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492806	NM_207363.3(NCKAP5):c.3671C>T (p.Pro1224Leu)	NCKAP5 (P1224L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782981	NM_207363.3(NCKAP5):c.3670C>T (p.Pro1224Ser)	NCKAP5 (P1224S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2240203	NM_207363.3(NCKAP5):c.3638C>T (p.Ser1213Leu)	NCKAP5 (S1213L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 711852	NM_207363.3(NCKAP5):c.3630A>G (p.Leu1210=)	NCKAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2352314	NM_207363.3(NCKAP5):c.3621T>A (p.Asn1207Lys)	NCKAP5 (N1207K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296711	NM_207363.3(NCKAP5):c.3608C>T (p.Ala1203Val)	NCKAP5 (A1203V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298780	NM_207363.3(NCKAP5):c.3533C>A (p.Ala1178Asp)	NCKAP5 (A1178D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335106	NM_207363.3(NCKAP5):c.3496G>A (p.Val1166Met)	NCKAP5 (V1166M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182648	NM_207363.3(NCKAP5):c.3494C>G (p.Thr1165Ser)	NCKAP5 (T1165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593063	NM_207363.3(NCKAP5):c.3469C>G (p.Pro1157Ala)	NCKAP5 (P1157A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182642	NM_207363.3(NCKAP5):c.3454G>A (p.Val1152Met)	NCKAP5 (V1152M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298774	NM_207363.3(NCKAP5):c.3299C>G (p.Pro1100Arg)	NCKAP5 (P1100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731490	NM_207363.3(NCKAP5):c.3255T>C (p.Ser1085=)	NCKAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3182640	NM_207363.3(NCKAP5):c.3236C>T (p.Thr1079Met)	NCKAP5 (T1079M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597448	NM_207363.3(NCKAP5):c.3161T>C (p.Leu1054Pro)	NCKAP5 (L1054P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602294	NM_207363.3(NCKAP5):c.3148C>G (p.Pro1050Ala)	NCKAP5 (P1050A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561159	NM_207363.3(NCKAP5):c.3065C>T (p.Ala1022Val)	NCKAP5 (A1022V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272616	NM_207363.3(NCKAP5):c.3056G>A (p.Arg1019Gln)	NCKAP5 (R1019Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182625	NM_207363.3(NCKAP5):c.3017C>A (p.Thr1006Asn)	NCKAP5 (T1006N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773649	NM_207363.3(NCKAP5):c.2962A>T (p.Thr988Ser)	NCKAP5 (T988S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3298779	NM_207363.3(NCKAP5):c.2944A>G (p.Ile982Val)	NCKAP5 (I982V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298778	NM_207363.3(NCKAP5):c.2915C>G (p.Pro972Arg)	NCKAP5 (P972R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351229	NM_207363.3(NCKAP5):c.2915C>T (p.Pro972Leu)	NCKAP5 (P972L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537747	NM_207363.3(NCKAP5):c.2861C>G (p.Thr954Ser)	NCKAP5 (T954S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602896	NM_207363.3(NCKAP5):c.2836G>A (p.Asp946Asn)	NCKAP5 (D946N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218504	NM_207363.3(NCKAP5):c.2805G>T (p.Arg935Ser)	NCKAP5 (R935S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459468	NM_207363.3(NCKAP5):c.2789C>T (p.Pro930Leu)	NCKAP5 (P930L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329307	NM_207363.3(NCKAP5):c.2759C>T (p.Pro920Leu)	NCKAP5 (P920L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770871	NM_207363.3(NCKAP5):c.2733G>A (p.Thr911=)	NCKAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2590971	NM_207363.3(NCKAP5):c.2704G>A (p.Glu902Lys)	NCKAP5 (E902K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249125	NM_207363.3(NCKAP5):c.2698G>A (p.Ala900Thr)	NCKAP5 (A900T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739798	NM_207363.3(NCKAP5):c.2698G>T (p.Ala900Ser)	NCKAP5 (A900S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3182595	NM_207363.3(NCKAP5):c.2618C>T (p.Pro873Leu)	NCKAP5 (P873L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182591	NM_207363.3(NCKAP5):c.2592C>G (p.His864Gln)	NCKAP5 (H864Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246863	NM_207363.3(NCKAP5):c.2591A>G (p.His864Arg)	NCKAP5 (H864R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213414	NM_207363.3(NCKAP5):c.2579G>A (p.Arg860Gln)	NCKAP5 (R860Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285165	NM_207363.3(NCKAP5):c.2551G>A (p.Glu851Lys)	NCKAP5 (E851K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298775	NM_207363.3(NCKAP5):c.2461G>T (p.Ala821Ser)	NCKAP5 (A821S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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