19916[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 175

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 155431	GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3	DCAF12, DNAI1 +37 more	Copy number gain	See cases	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 2234852	NM_194313.4(KIF24):c.4037G>A (p.Arg1346Lys)	KIF24, LOC126860617 (R1346K)	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 3114706	NM_194313.4(KIF24):c.4010T>C (p.Leu1337Pro)	KIF24, LOC126860617 (L1337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 756111	NM_194313.4(KIF24):c.3966+7A>G	KIF24, LOC126860617	Single nucleotide variant (intron variant)	not provided	GBenign
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 3288548	NM_194313.4(KIF24):c.3823T>A (p.Ser1275Thr)	KIF24 (S1275T)	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 774429	NM_194313.4(KIF24):c.3782G>C (p.Arg1261Thr)	KIF24 (R1261T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2492059	NM_194313.4(KIF24):c.3742A>C (p.Ser1248Arg)	KIF24 (S1248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024785	NM_194313.4(KIF24):c.3617T>G (p.Leu1206Arg)	KIF24 (L1206R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2589255	NM_194313.4(KIF24):c.3583A>G (p.Ile1195Val)	KIF24 (I1195V)	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 3288549	NM_194313.4(KIF24):c.3546T>A (p.Asp1182Glu)	KIF24 (D1182E)	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 2386941	NM_194313.4(KIF24):c.3295C>A (p.Gln1099Lys)	KIF24 (Q1099K)	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 2302695	NM_194313.4(KIF24):c.3203C>T (p.Ser1068Leu)	KIF24 (S1068L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2323493	NM_194313.4(KIF24):c.3161T>C (p.Met1054Thr)	KIF24 (M1054T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791298	NM_194313.4(KIF24):c.3140G>T (p.Gly1047Val)	KIF24 (G1047V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2591500	NM_194313.4(KIF24):c.3118A>T (p.Thr1040Ser)	KIF24 (T1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2232762	NM_194313.4(KIF24):c.3026G>A (p.Arg1009Lys)	KIF24 (R1009K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768289	NM_194313.4(KIF24):c.3021T>A (p.Pro1007=)	KIF24	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2659154	NM_194313.4(KIF24):c.2817A>G (p.Pro939=)	KIF24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 734451	NM_194313.4(KIF24):c.2718C>T (p.Leu906=)	KIF24	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3114697	NM_194313.4(KIF24):c.2642G>A (p.Arg881Lys)	KIF24 (R881K)	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 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 2255142	NM_194313.4(KIF24):c.2387C>T (p.Pro796Leu)	KIF24 (P796L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786907	NM_194313.4(KIF24):c.2382G>A (p.Arg794=)	KIF24	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3114694	NM_194313.4(KIF24):c.2300A>G (p.Tyr767Cys)	KIF24 (Y767C)	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 2252801	NM_194313.4(KIF24):c.2134G>T (p.Val712Leu)	KIF24 (V712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745932	NM_194313.4(KIF24):c.2113A>G (p.Lys705Glu)	KIF24 (K705E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3288546	NM_194313.4(KIF24):c.2089G>A (p.Gly697Ser)	KIF24 (G697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2479209	NM_194313.4(KIF24):c.1997C>T (p.Ala666Val)	KIF24 (A666V)	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 2365461	NM_194313.4(KIF24):c.1852A>G (p.Ile618Val)	KIF24 (I618V)	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 2352706	NM_194313.4(KIF24):c.1811C>T (p.Thr604Met)	KIF24 (T604M)	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 3288542	NM_194313.4(KIF24):c.1745A>G (p.Lys582Arg)	KIF24 (K582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659155	NM_194313.4(KIF24):c.1697C>T (p.Ser566Phe)	KIF24 (S566F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3288539	NM_194313.4(KIF24):c.1661C>G (p.Thr554Ser)	KIF24 (T554S)	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 2607440	NM_194313.4(KIF24):c.1618G>T (p.Ala540Ser)	KIF24 (A540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1217223	NM_194313.4(KIF24):c.1565A>G (p.Asn522Ser)	KIF24 (N522S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
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 771428	NM_194313.4(KIF24):c.1401_1404del (p.Thr468fs)	KIF24 (T468fs)	Microsatellite (frameshift variant)	not provided	GBenign
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 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 243059	Single allele	KIF24	Deletion	Peripheral neuropathy	GUncertain significance
Select item 2618911	NM_194313.4(KIF24):c.1165A>G (p.Ile389Val)	KIF24 (I389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2