KIF17[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 1288352	NC_000001.11:g.20661840T>C	DDOST, KIF17	Single nucleotide variant	not provided	GBenign
Select item 1293781	NC_000001.11:g.20661854A>G	DDOST, KIF17	Single nucleotide variant	not provided	GBenign
Select item 3114530	NM_001122819.3(KIF17):c.3001C>T (p.Pro1001Ser)	KIF17 (P1001S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557796	NM_001122819.3(KIF17):c.2947A>T (p.Ser983Cys)	KIF17 (S884C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525343	NM_001122819.3(KIF17):c.2921C>T (p.Ser974Leu)	KIF17 (S974L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520530	NM_001122819.3(KIF17):c.2877G>T (p.Gln959His)	KIF17 (Q960H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476381	NM_001122819.3(KIF17):c.2804A>T (p.Tyr935Phe)	KIF17 (Y936F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037311	NM_001122819.3(KIF17):c.2790+9C>T	KIF17	Single nucleotide variant (intron variant)	KIF17-related disorder	GLikely benign
Select item 716042	NM_001122819.3(KIF17):c.2787C>T (p.Asn929=)	KIF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2552729	NM_001122819.3(KIF17):c.2753G>A (p.Arg918His)	KIF17 (R819H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326888	NM_001122819.3(KIF17):c.2704A>C (p.Lys902Gln)	KIF17 (K902Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266386	NM_001122819.3(KIF17):c.2683A>G (p.Ile895Val)	KIF17 (I895V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114529	NM_001122819.3(KIF17):c.2542C>T (p.Arg848Cys)	KIF17 (R848C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223378	NM_001122819.3(KIF17):c.2468G>A (p.Arg823Gln)	KIF17 (R723Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338476	NM_001122819.3(KIF17):c.2426G>A (p.Arg809Gln)	KIF17 (R709Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240099	NM_001122819.3(KIF17):c.2420A>G (p.Glu807Gly)	KIF17 (E707G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638438	NM_001122819.3(KIF17):c.2398G>A (p.Val800Ile)	KIF17 (V700I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2286936	NM_001122819.3(KIF17):c.2380G>T (p.Asp794Tyr)	KIF17 (D694Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351650	NM_001122819.3(KIF17):c.2377G>A (p.Gly793Arg)	KIF17 (G793R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221493	NM_001122819.3(KIF17):c.2330G>A (p.Arg777His)	KIF17 (R677H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255439	NM_001122819.3(KIF17):c.2329C>G (p.Arg777Gly)	KIF17 (R677G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114528	NM_001122819.3(KIF17):c.2315G>A (p.Arg772His)	KIF17 (R672H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114527	NM_001122819.3(KIF17):c.2306G>A (p.Arg769Gln)	KIF17 (R769Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114526	NM_001122819.3(KIF17):c.2284G>A (p.Asp762Asn)	KIF17 (D762N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376282	NM_001122819.3(KIF17):c.2254G>T (p.Val752Phe)	KIF17 (V652F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638439	NM_001122819.3(KIF17):c.2232-6C>T	KIF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2301579	NM_001122819.3(KIF17):c.2225T>C (p.Leu742Pro)	KIF17 (L742P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114525	NM_001122819.3(KIF17):c.2194C>G (p.Pro732Ala)	KIF17 (P732A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219635	NM_001122819.3(KIF17):c.2153G>A (p.Arg718Lys)	KIF17 (R618K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248730	NM_001122819.3(KIF17):c.2143G>C (p.Gly715Arg)	KIF17 (G615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053692	NM_001122819.3(KIF17):c.2132C>T (p.Pro711Leu)	KIF17 (P611L +1 more)	Single nucleotide variant (missense variant)	KIF17-related disorder	GLikely benign
Select item 2638440	NM_001122819.3(KIF17):c.2093A>C (p.Gln698Pro)	KIF17 (Q598P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387038	NM_001122819.3(KIF17):c.2090C>T (p.Ala697Val)	KIF17 (A697V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114524	NM_001122819.3(KIF17):c.2077G>T (p.Val693Leu)	KIF17 (V593L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789147	NM_001122819.3(KIF17):c.2020-6A>G	KIF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2242433	NM_001122819.3(KIF17):c.2004C>A (p.Asp668Glu)	KIF17 (D668E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114523	NM_001122819.3(KIF17):c.1984G>A (p.Glu662Lys)	KIF17 (E562K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037663	NM_001122819.3(KIF17):c.1963G>A (p.Glu655Lys)	KIF17 (E555K +1 more)	Single nucleotide variant (missense variant)	KIF17-related disorder	GLikely benign
Select item 2349307	NM_001122819.3(KIF17):c.1945G>T (p.Ala649Ser)	KIF17 (A549S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255662	NM_001122819.3(KIF17):c.1721G>C (p.Arg574Thr)	KIF17 (R574T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114522	NM_001122819.3(KIF17):c.1718G>A (p.Ser573Asn)	KIF17 (S473N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241832	NM_001122819.3(KIF17):c.1700C>T (p.Pro567Leu)	KIF17 (P567L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114521	NM_001122819.3(KIF17):c.1663G>C (p.Gly555Arg)	KIF17 (G455R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362358	NM_001122819.3(KIF17):c.1657T>A (p.Phe553Ile)	KIF17 (F453I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491210	NM_001122819.3(KIF17):c.1651G>A (p.Glu551Lys)	KIF17 (E451K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114520	NM_001122819.3(KIF17):c.1633G>C (p.Glu545Gln)	KIF17 (E445Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350723	NM_001122819.3(KIF17):c.1595C>G (p.Ser532Cys)	KIF17 (S532C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114519	NM_001122819.3(KIF17):c.1534G>A (p.Val512Ile)	KIF17 (V512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305700	NM_001122819.3(KIF17):c.1508C>T (p.Thr503Met)	KIF17 (T403M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519367	NM_001122819.3(KIF17):c.1484T>C (p.Val495Ala)	KIF17 (V395A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266688	NM_001122819.3(KIF17):c.1465G>C (p.Ala489Pro)	KIF17 (A489P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394802	NM_001122819.3(KIF17):c.1445G>C (p.Ser482Thr)	KIF17 (S382T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114518	NM_001122819.3(KIF17):c.1424T>C (p.Met475Thr)	KIF17 (M475T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314917	NM_001122819.3(KIF17):c.1400G>A (p.Gly467Glu)	KIF17 (G467E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613823	NM_001122819.3(KIF17):c.1379C>T (p.Thr460Ile)	KIF17 (T460I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114516	NM_001122819.3(KIF17):c.1374G>C (p.Lys458Asn)	KIF17 (K358N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789912	NM_001122819.3(KIF17):c.1374G>A (p.Lys458=)	KIF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596492	NM_001122819.3(KIF17):c.1369C>T (p.Arg457Trp)	KIF17 (R357W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383345	NM_001122819.3(KIF17):c.1325G>A (p.Arg442His)	KIF17 (R442H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267210	NM_001122819.3(KIF17):c.1319C>T (p.Ala440Val)	KIF17 (A440V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114515	NM_001122819.3(KIF17):c.1258C>G (p.Leu420Val)	KIF17 (L320V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043127	NM_001122819.3(KIF17):c.1234-3dup	KIF17	Duplication (intron variant)	KIF17-related disorder	GLikely benign
Select item 3114514	NM_001122819.3(KIF17):c.1229G>A (p.Arg410Gln)	KIF17 (R410Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114513	NM_001122819.3(KIF17):c.1141G>T (p.Val381Leu)	KIF17 (V381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299610	NM_001122819.3(KIF17):c.1106G>A (p.Ser369Asn)	KIF17 (S269N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114512	NM_001122819.3(KIF17):c.1097A>G (p.Gln366Arg)	KIF17 (Q266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114511	NM_001122819.3(KIF17):c.1089C>G (p.Ile363Met)	KIF17 (I363M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269353	NM_001122819.3(KIF17):c.1024A>C (p.Asn342His)	KIF17 (N242H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114535	NM_001122819.3(KIF17):c.944C>T (p.Ala315Val)	KIF17 (A315V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365529	NM_001122819.3(KIF17):c.904G>A (p.Gly302Ser)	KIF17 (G302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114534	NM_001122819.3(KIF17):c.881G>A (p.Arg294Gln)	KIF17 (R194Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204680	NM_001122819.3(KIF17):c.853G>A (p.Val285Ile)	KIF17 (V185I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312897	NM_001122819.3(KIF17):c.809T>C (p.Leu270Pro)	KIF17 (L170P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297448	NM_001122819.3(KIF17):c.787A>G (p.Ile263Val)	KIF17 (I263V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238908	NM_001122819.3(KIF17):c.736C>T (p.Arg246Trp)	KIF17 (R146W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602884	NM_001122819.3(KIF17):c.677G>A (p.Arg226Gln)	KIF17 (R226Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320350	NM_001122819.3(KIF17):c.646A>G (p.Ile216Val)	KIF17 (I116V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554730	NM_001122819.3(KIF17):c.625C>T (p.Arg209Cys)	KIF17 (R209C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387168	NM_001122819.3(KIF17):c.602C>T (p.Thr201Met)	KIF17 (T101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114533	NM_001122819.3(KIF17):c.595G>A (p.Gly199Ser)	KIF17 (G99S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332645	NM_001122819.3(KIF17):c.586C>T (p.Arg196Cys)	KIF17 (R196C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389011	NM_001122819.3(KIF17):c.547G>A (p.Ala183Thr)	KIF17 (A183T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378338	NM_001122819.3(KIF17):c.544G>A (p.Val182Met)	KIF17 (V82M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114532	NM_001122819.3(KIF17):c.505G>A (p.Val169Met)	KIF17 (V69M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518212	NM_001122819.3(KIF17):c.469C>G (p.Gln157Glu)	KIF17 (Q157E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394424	NM_001122819.3(KIF17):c.443G>A (p.Arg148Gln)	KIF17 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516433	NM_001122819.3(KIF17):c.418C>A (p.Leu140Met)	KIF17 (L140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114531	NM_001122819.3(KIF17):c.407G>A (p.Arg136Gln)	KIF17 (R136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359957	NM_001122819.3(KIF17):c.406C>T (p.Arg136Trp)	KIF17 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254594	NM_001122819.3(KIF17):c.403G>A (p.Val135Ile)	KIF17 (V35I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481653	NM_001122819.3(KIF17):c.372C>G (p.Ser124Arg)	KIF17 (S124R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638441	NM_001122819.3(KIF17):c.349G>A (p.Ala117Thr)	KIF17 (A117T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788503	NM_001122819.3(KIF17):c.321G>A (p.Pro107=)	KIF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2486328	NM_001122819.3(KIF17):c.320C>T (p.Pro107Leu)	KIF17 (P107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279128	NM_001122819.3(KIF17):c.247T>C (p.Tyr83His)	KIF17 (Y83H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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