ClinVar for Gene (Select 347240) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288550	NM_194313.4(KIF24):c.3124G>A (p.Ala1042Thr)	KIF24 (A1042T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288549	NM_194313.4(KIF24):c.3546T>A (p.Asp1182Glu)	KIF24 (D1182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288548	NM_194313.4(KIF24):c.3823T>A (p.Ser1275Thr)	KIF24 (S1275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288547	NM_194313.4(KIF24):c.48G>T (p.Gln16His)	KIF24 (Q16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288546	NM_194313.4(KIF24):c.2089G>A (p.Gly697Ser)	KIF24 (G697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288545	NM_194313.4(KIF24):c.445A>G (p.Thr149Ala)	KIF24 (T149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288544	NM_194313.4(KIF24):c.716G>A (p.Arg239His)	KIF24 (R239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288543	NM_194313.4(KIF24):c.4015T>C (p.Ser1339Pro)	KIF24, LOC126860617 (S1339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288542	NM_194313.4(KIF24):c.1745A>G (p.Lys582Arg)	KIF24 (K582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288541	NM_194313.4(KIF24):c.2749G>C (p.Val917Leu)	KIF24 (V917L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288540	NM_194313.4(KIF24):c.2087G>A (p.Arg696His)	KIF24 (R696H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288539	NM_194313.4(KIF24):c.1661C>G (p.Thr554Ser)	KIF24 (T554S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	AQP7, ARHGEF39 +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3114708	NM_194313.4(KIF24):c.691C>T (p.Arg231Cys)	KIF24 (R231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114706	NM_194313.4(KIF24):c.4010T>C (p.Leu1337Pro)	KIF24, LOC126860617 (L1337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114705	NM_194313.4(KIF24):c.3793A>G (p.Arg1265Gly)	KIF24 (R1265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114704	NM_194313.4(KIF24):c.3596T>C (p.Val1199Ala)	KIF24 (V1199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114703	NM_194313.4(KIF24):c.3536C>T (p.Thr1179Met)	KIF24 (T1179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114702	NM_194313.4(KIF24):c.3340C>G (p.Leu1114Val)	KIF24 (L1114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114701	NM_194313.4(KIF24):c.3200C>T (p.Pro1067Leu)	KIF24 (P1067L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114700	NM_194313.4(KIF24):c.3163T>A (p.Ser1055Thr)	KIF24 (S1055T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114699	NM_194313.4(KIF24):c.2956A>T (p.Thr986Ser)	KIF24 (T986S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114698	NM_194313.4(KIF24):c.284G>A (p.Arg95His)	KIF24 (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114697	NM_194313.4(KIF24):c.2642G>A (p.Arg881Lys)	KIF24 (R881K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114696	NM_194313.4(KIF24):c.2557G>T (p.Asp853Tyr)	KIF24 (D853Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114695	NM_194313.4(KIF24):c.2413C>T (p.Pro805Ser)	KIF24 (P805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114694	NM_194313.4(KIF24):c.2300A>G (p.Tyr767Cys)	KIF24 (Y767C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114693	NM_194313.4(KIF24):c.201A>T (p.Glu67Asp)	KIF24 (E67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114692	NM_194313.4(KIF24):c.1846C>A (p.Pro616Thr)	KIF24 (P616T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114691	NM_194313.4(KIF24):c.158G>A (p.Arg53His)	KIF24 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114690	NM_194313.4(KIF24):c.1238A>T (p.Glu413Val)	KIF24 (E413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114689	NM_194313.4(KIF24):c.1234A>C (p.Lys412Gln)	KIF24 (K412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114688	NM_194313.4(KIF24):c.1139G>A (p.Arg380Lys)	KIF24 (R380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114687	NM_194313.4(KIF24):c.1079A>G (p.Tyr360Cys)	KIF24 (Y360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3024785	NM_194313.4(KIF24):c.3617T>G (p.Leu1206Arg)	KIF24 (L1206R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2681351	NM_194313.4(KIF24):c.471A>T (p.Thr157=)	KIF24	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2659155	NM_194313.4(KIF24):c.1697C>T (p.Ser566Phe)	KIF24 (S566F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659154	NM_194313.4(KIF24):c.2817A>G (p.Pro939=)	KIF24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618911	NM_194313.4(KIF24):c.1165A>G (p.Ile389Val)	KIF24 (I389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612645	NM_194313.4(KIF24):c.677T>C (p.Val226Ala)	KIF24 (V226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609402	NM_194313.4(KIF24):c.3875A>G (p.Gln1292Arg)	KIF24, LOC126860617 (Q1292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607440	NM_194313.4(KIF24):c.1618G>T (p.Ala540Ser)	KIF24 (A540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591500	NM_194313.4(KIF24):c.3118A>T (p.Thr1040Ser)	KIF24 (T1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590490	NM_194313.4(KIF24):c.731A>G (p.Asn244Ser)	KIF24 (N244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589589	NM_194313.4(KIF24):c.470C>T (p.Thr157Ile)	KIF24 (T157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589255	NM_194313.4(KIF24):c.3583A>G (p.Ile1195Val)	KIF24 (I1195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551196	NM_194313.4(KIF24):c.3773C>T (p.Pro1258Leu)	KIF24 (P1258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545013	NM_194313.4(KIF24):c.3239T>C (p.Leu1080Pro)	KIF24 (L1080P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541911	NM_194313.4(KIF24):c.581A>G (p.His194Arg)	KIF24 (H194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530576	NM_194313.4(KIF24):c.1157T>A (p.Met386Lys)	KIF24 (M386K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511086	NM_194313.4(KIF24):c.4055A>C (p.Tyr1352Ser)	KIF24, LOC126860617 (Y1352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510686	NM_194313.4(KIF24):c.2222C>T (p.Thr741Met)	KIF24 (T741M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492059	NM_194313.4(KIF24):c.3742A>C (p.Ser1248Arg)	KIF24 (S1248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479518	NM_194313.4(KIF24):c.1394A>G (p.Asp465Gly)	KIF24 (D465G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479209	NM_194313.4(KIF24):c.1997C>T (p.Ala666Val)	KIF24 (A666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472024	NM_194313.4(KIF24):c.2333A>T (p.Gln778Leu)	KIF24 (Q778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468446	NM_194313.4(KIF24):c.115G>T (p.Asp39Tyr)	KIF24 (D39Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465993	NM_194313.4(KIF24):c.1696T>C (p.Ser566Pro)	KIF24 (S566P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460555	NM_194313.4(KIF24):c.73G>C (p.Gly25Arg)	KIF24 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2403986	NM_194313.4(KIF24):c.151C>G (p.Arg51Gly)	KIF24 (R51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392388	NM_194313.4(KIF24):c.482C>G (p.Ser161Cys)	KIF24 (S161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386941	NM_194313.4(KIF24):c.3295C>A (p.Gln1099Lys)	KIF24 (Q1099K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375526	NM_194313.4(KIF24):c.251G>T (p.Arg84Leu)	KIF24 (R84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374698	NM_194313.4(KIF24):c.2695A>G (p.Ile899Val)	KIF24 (I899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365461	NM_194313.4(KIF24):c.1852A>G (p.Ile618Val)	KIF24 (I618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365460	NM_194313.4(KIF24):c.1762G>T (p.Val588Phe)	KIF24 (V588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352706	NM_194313.4(KIF24):c.1811C>T (p.Thr604Met)	KIF24 (T604M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348652	NM_194313.4(KIF24):c.1957C>T (p.Arg653Cys)	KIF24 (R653C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347877	NM_194313.4(KIF24):c.28T>C (p.Cys10Arg)	KIF24 (C10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347056	NM_194313.4(KIF24):c.2621A>G (p.Gln874Arg)	KIF24 (Q874R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323493	NM_194313.4(KIF24):c.3161T>C (p.Met1054Thr)	KIF24 (M1054T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314730	NM_194313.4(KIF24):c.226C>T (p.Arg76Cys)	KIF24 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306032	NM_194313.4(KIF24):c.1013A>G (p.Lys338Arg)	KIF24 (K338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305311	NM_194313.4(KIF24):c.1646G>C (p.Gly549Ala)	KIF24 (G549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302695	NM_194313.4(KIF24):c.3203C>T (p.Ser1068Leu)	KIF24 (S1068L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274395	NM_194313.4(KIF24):c.3107G>A (p.Gly1036Glu)	KIF24 (G1036E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258300	NM_194313.4(KIF24):c.840T>A (p.Phe280Leu)	KIF24 (F280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256226	NM_194313.4(KIF24):c.2096T>C (p.Leu699Pro)	KIF24 (L699P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255142	NM_194313.4(KIF24):c.2387C>T (p.Pro796Leu)	KIF24 (P796L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254078	NM_194313.4(KIF24):c.617G>C (p.Cys206Ser)	KIF24 (C206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252801	NM_194313.4(KIF24):c.2134G>T (p.Val712Leu)	KIF24 (V712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234852	NM_194313.4(KIF24):c.4037G>A (p.Arg1346Lys)	KIF24, LOC126860617 (R1346K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232762	NM_194313.4(KIF24):c.3026G>A (p.Arg1009Lys)	KIF24 (R1009K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228850	NM_194313.4(KIF24):c.220C>G (p.Pro74Ala)	KIF24 (P74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221301	NM_194313.4(KIF24):c.3577A>C (p.Thr1193Pro)	KIF24 (T1193P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213671	NM_194313.4(KIF24):c.3989A>G (p.Gln1330Arg)	KIF24, LOC126860617 (Q1330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213670	NM_194313.4(KIF24):c.1552T>C (p.Cys518Arg)	KIF24 (C518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211194	NM_194313.4(KIF24):c.472G>A (p.Ala158Thr)	KIF24 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808179	GRCh37/hg19 9p13.3(chr9:34247282-34986900)x4	ARID3C, C9orf24 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic

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