ClinVar for Gene (Select 57082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369135	NM_144508.5(KNL1):c.6440G>A (p.Arg2147His)	KNL1 (R2147H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358435	NM_144508.5(KNL1):c.4737A>G (p.Leu1579=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3357745	NM_144508.5(KNL1):c.6172+2T>C	KNL1	Single nucleotide variant (splice donor variant)	KNL1-related disorder	GUncertain significance
Select item 3354310	NM_144508.5(KNL1):c.6141A>G (p.Glu2047=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3351904	NM_144508.5(KNL1):c.4993G>A (p.Val1665Ile)	KNL1 (V1665I +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder	GLikely benign
Select item 3343341	NM_144508.5(KNL1):c.6398C>A (p.Thr2133Asn)	KNL1 (T2133N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337238	NM_144508.5(KNL1):c.4537del (p.Thr1513fs)	KNL1 (T1513fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3251506	NM_144508.5(KNL1):c.5360C>T (p.Thr1787Met)	KNL1 (T1787M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3239278	NM_144508.5(KNL1):c.3060A>G (p.Glu1020=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234562	NM_144508.5(KNL1):c.3388A>G (p.Arg1130Gly)	KNL1 (R1130G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116130	NM_144508.5(KNL1):c.5431A>G (p.Ile1811Val)	KNL1 (I1837V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064047	NM_144508.5(KNL1):c.1780G>A (p.Ala594Thr)	KNL1 (A594T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	Gnot provided
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063362	GRCh37/hg19 15q15.1(chr15:40892419-41125118)x3	C15orf62, DNAJC17 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3056764	NM_144508.5(KNL1):c.4908G>A (p.Pro1636=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3056738	NM_144508.5(KNL1):c.213G>A (p.Glu71=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3054695	NM_144508.5(KNL1):c.2412A>G (p.Lys804=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3053106	NM_144508.5(KNL1):c.4695T>C (p.Asn1565=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3045747	NM_144508.5(KNL1):c.1398A>C (p.Pro466=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3039908	NM_144508.5(KNL1):c.250+493_250+495del	KNL1	Microsatellite (intron variant)	KNL1-related disorder	GLikely benign
Select item 3039295	NM_144508.5(KNL1):c.3294C>T (p.Asn1098=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3034753	NM_144508.5(KNL1):c.4709A>C (p.Glu1570Ala)	KNL1 (E1570A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029606	NM_144508.5(KNL1):c.5673C>G (p.Leu1891=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3029414	NM_144508.5(KNL1):c.2490C>T (p.Asp830=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder	GLikely benign
Select item 3027007	NM_144508.5(KNL1):c.4059T>C (p.Ser1353=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689335	NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)	KNL1 (A493T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2663668	NM_144508.5(KNL1):c.3020G>A (p.Arg1007His)	KNL1 (R1007H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663624	NM_144508.5(KNL1):c.5569G>A (p.Glu1857Lys)	KNL1 (E1857K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662353	NM_144508.5(KNL1):c.3991A>C (p.Asn1331His)	KNL1 (N1331H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645181	NM_144508.5(KNL1):c.5508C>T (p.Asp1836=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645180	NM_144508.5(KNL1):c.2718A>G (p.Leu906=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645179	NM_144508.5(KNL1):c.2601C>T (p.Asp867=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645178	NM_144508.5(KNL1):c.1491A>G (p.Gln497=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645177	NM_144508.5(KNL1):c.840G>T (p.Gly280=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645176	NM_144508.5(KNL1):c.743C>T (p.Pro248Leu)	KNL1 (P248L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645175	NM_144508.5(KNL1):c.693T>C (p.Pro231=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631932	NM_144508.5(KNL1):c.3178A>G (p.Ser1060Gly)	KNL1 (S1060G +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder	GUncertain significance
Select item 2628686	NM_144508.5(KNL1):c.4072C>T (p.Leu1358Phe)	KNL1 (L1358F +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder	GUncertain significance
Select item 2628563	NM_144508.5(KNL1):c.4027A>G (p.Asn1343Asp)	KNL1 (N1343D +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder	GUncertain significance
Select item 2628543	NM_144508.5(KNL1):c.398G>A (p.Arg133His)	KNL1 (R133H +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder	GUncertain significance
Select item 2584863	NM_144508.5(KNL1):c.5463C>G (p.Cys1821Trp)	KNL1 (C1847W +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2584862	NM_144508.5(KNL1):c.220A>T (p.Met74Leu)	KNL1 (M74L)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2579620	NM_144508.5(KNL1):c.5126A>C (p.Gln1709Pro)	KNL1 (Q1709P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579617	NM_144508.5(KNL1):c.2561G>A (p.Gly854Asp)	KNL1 (G854D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577198	NM_144508.5(KNL1):c.5723T>G (p.Leu1908Ter)	KNL1 (L1908* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2573703	NM_144508.5(KNL1):c.5965G>A (p.Gly1989Arg)	KNL1 (G1989R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505657	NM_144508.5(KNL1):c.5288C>T (p.Thr1763Met)	KNL1 (T1763M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505080	NM_144508.5(KNL1):c.3490C>A (p.Leu1164Met)	KNL1 (L1164M +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	Gnot provided
Select item 2498606	NM_144508.5(KNL1):c.4018G>T (p.Ala1340Ser)	KNL1 (A1340S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441015	NM_144508.5(KNL1):c.197_197+4del	KNL1	Deletion (splice donor variant)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 2433259	NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)	KNL1 (Q2195R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2430656	NM_144508.5(KNL1):c.2960C>T (p.Thr987Ile)	KNL1 (T1013I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430455	NM_144508.5(KNL1):c.853C>G (p.Gln285Glu)	KNL1 (Q285E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411340	NM_144508.5(KNL1):c.92G>A (p.Arg31Lys)	KNL1 (R31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407018	NM_144508.5(KNL1):c.5234A>C (p.Glu1745Ala)	KNL1 (E1745A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405650	NM_144508.5(KNL1):c.3068ATA[1] (p.Asn1024del)	KNL1 (N1050del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2401592	NM_144508.5(KNL1):c.2616G>C (p.Met872Ile)	KNL1 (M898I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396857	NM_144508.5(KNL1):c.3500C>T (p.Thr1167Ile)	KNL1 (T1193I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391283	NM_144508.5(KNL1):c.4208C>G (p.Thr1403Ser)	KNL1 (T1429S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383328	NM_144508.5(KNL1):c.397C>T (p.Arg133Cys)	KNL1 (R159C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381491	NM_144508.5(KNL1):c.935C>A (p.Thr312Lys)	KNL1 (T338K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373227	NM_144508.5(KNL1):c.2603A>G (p.Asp868Gly)	KNL1 (D868G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344914	NM_144508.5(KNL1):c.3713_3715del (p.Asn1238del)	KNL1 (N1264del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2337567	NM_144508.5(KNL1):c.1186C>G (p.His396Asp)	KNL1 (H396D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331259	NM_144508.5(KNL1):c.3430A>C (p.Asn1144His)	KNL1 (N1144H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299611	NM_144508.5(KNL1):c.4205A>G (p.Gln1402Arg)	KNL1 (Q1428R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298417	NM_144508.5(KNL1):c.2612A>G (p.Asp871Gly)	KNL1 (D871G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295275	NM_144508.5(KNL1):c.4956C>G (p.Ile1652Met)	KNL1 (I1652M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284305	NM_144508.5(KNL1):c.3361T>C (p.Cys1121Arg)	KNL1 (C1147R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280063	NM_144508.5(KNL1):c.2183A>G (p.Gln728Arg)	KNL1 (Q754R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275646	NM_144508.5(KNL1):c.1813A>G (p.Ser605Gly)	KNL1 (S605G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273066	NM_144508.5(KNL1):c.4693_4696del (p.Asn1565fs)	KNL1 (N1565fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2268423	NM_144508.5(KNL1):c.5224T>A (p.Tyr1742Asn)	KNL1 (Y1742N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265158	NM_144508.5(KNL1):c.1063A>G (p.Thr355Ala)	KNL1 (T381A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261907	NM_144508.5(KNL1):c.6184C>G (p.Leu2062Val)	KNL1 (L2062V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259394	NM_144508.5(KNL1):c.1655C>T (p.Ser552Leu)	KNL1 (S552L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248914	NM_144508.5(KNL1):c.3484A>G (p.Ser1162Gly)	KNL1 (S1162G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246014	NM_144508.5(KNL1):c.2923T>C (p.Phe975Leu)	KNL1 (F1001L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246013	NM_144508.5(KNL1):c.2825C>G (p.Thr942Ser)	KNL1 (T942S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239730	NM_144508.5(KNL1):c.6318G>T (p.Leu2106Phe)	KNL1 (L2106F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232182	NM_144508.5(KNL1):c.3122C>G (p.Thr1041Ser)	KNL1 (T1041S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231305	NM_144508.5(KNL1):c.1491A>C (p.Gln497His)	KNL1 (Q497H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228989	NM_144508.5(KNL1):c.2582C>T (p.Thr861Ile)	KNL1 (T887I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228776	NM_144508.5(KNL1):c.3136A>G (p.Lys1046Glu)	KNL1 (K1046E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222355	NM_144508.5(KNL1):c.4741C>T (p.Pro1581Ser)	KNL1 (P1581S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214726	NM_144508.5(KNL1):c.5068T>A (p.Ser1690Thr)	KNL1 (S1716T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214725	NM_144508.5(KNL1):c.4352C>T (p.Pro1451Leu)	KNL1 (P1477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204920	NM_144508.5(KNL1):c.1689G>T (p.Lys563Asn)	KNL1 (K563N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878682	NM_144508.5(KNL1):c.4693A>C (p.Asn1565His)	KNL1 (N1565H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703886	NM_144508.5(KNL1):c.6271C>A (p.Gln2091Lys)	KNL1 (Q2091K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702660	NM_144508.5(KNL1):c.5657C>T (p.Pro1886Leu)	KNL1 (P1886L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701689	NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn)	KNL1 (S1022N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1700937	NM_144508.5(KNL1):c.3575G>A (p.Gly1192Glu)	KNL1 (G1192E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699626	NM_144508.5(KNL1):c.285-170G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697177	NM_144508.5(KNL1):c.6068A>G (p.Asp2023Gly)	KNL1 (D2023G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690305	NM_144508.5(KNL1):c.1076del (p.Gly359fs)	KNL1 (G359fs +1 more)	Deletion (frameshift variant)	Microcephaly 4, primary, autosomal recessive	GPathogenic
Select item 1687671	NM_144508.5(KNL1):c.6006+69A>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1684287	NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer)	KNL1	Deletion (nonsense)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 1675565	NM_144508.5(KNL1):c.3003A>G (p.Gly1001=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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