ClinVar for Gene (Select 653427) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279553	NM_001126334.1(FOXD4L5):c.599G>C (p.Arg200Pro)	FOXD4L5 (R200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279552	NM_001126334.1(FOXD4L5):c.403T>G (p.Cys135Gly)	FOXD4L5 (C135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279551	NM_001126334.1(FOXD4L5):c.172G>A (p.Gly58Arg)	FOXD4L5 (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279550	NM_001126334.1(FOXD4L5):c.1028G>C (p.Arg343Thr)	FOXD4L5 (R343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279549	NM_001126334.1(FOXD4L5):c.412A>G (p.Ile138Val)	FOXD4L5 (I138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279547	NM_001126334.1(FOXD4L5):c.38C>T (p.Pro13Leu)	FOXD4L5 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279546	NM_001126334.1(FOXD4L5):c.268T>C (p.Phe90Leu)	FOXD4L5 (F90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279545	NM_001126334.1(FOXD4L5):c.998G>A (p.Gly333Glu)	FOXD4L5 (G333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279544	NM_001126334.1(FOXD4L5):c.445T>A (p.Phe149Ile)	FOXD4L5 (F149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096360	NM_001126334.1(FOXD4L5):c.959C>T (p.Ala320Val)	FOXD4L5 (A320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096359	NM_001126334.1(FOXD4L5):c.872C>A (p.Ala291Glu)	FOXD4L5 (A291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096358	NM_001126334.1(FOXD4L5):c.85G>A (p.Val29Ile)	FOXD4L5 (V29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096357	NM_001126334.1(FOXD4L5):c.791A>G (p.His264Arg)	FOXD4L5 (H264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096356	NM_001126334.1(FOXD4L5):c.790C>A (p.His264Asn)	FOXD4L5 (H264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096354	NM_001126334.1(FOXD4L5):c.514G>C (p.Glu172Gln)	FOXD4L5 (E172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096353	NM_001126334.1(FOXD4L5):c.507C>G (p.Ile169Met)	FOXD4L5 (I169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096352	NM_001126334.1(FOXD4L5):c.484C>A (p.Leu162Met)	FOXD4L5 (L162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096351	NM_001126334.1(FOXD4L5):c.389C>T (p.Thr130Met)	FOXD4L5 (T130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096350	NM_001126334.1(FOXD4L5):c.148T>A (p.Phe50Ile)	FOXD4L5 (F50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096349	NM_001126334.1(FOXD4L5):c.1177A>C (p.Thr393Pro)	FOXD4L5 (T393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096347	NM_001126334.1(FOXD4L5):c.1170C>G (p.Ile390Met)	FOXD4L5 (I390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096346	NM_001126334.1(FOXD4L5):c.1169T>G (p.Ile390Ser)	FOXD4L5 (I390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096345	NM_001126334.1(FOXD4L5):c.1167C>G (p.Ser389Arg)	FOXD4L5 (S389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096344	NM_001126334.1(FOXD4L5):c.1166G>T (p.Ser389Ile)	FOXD4L5 (S389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096343	NM_001126334.1(FOXD4L5):c.1139T>A (p.Leu380His)	FOXD4L5 (L380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096342	NM_001126334.1(FOXD4L5):c.1121G>T (p.Cys374Phe)	FOXD4L5 (C374F)	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 2659233	NM_001126334.1(FOXD4L5):c.543C>T (p.Tyr181=)	FOXD4L5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659232	NM_001126334.1(FOXD4L5):c.780C>T (p.Tyr260=)	FOXD4L5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616948	NM_001126334.1(FOXD4L5):c.49C>T (p.Leu17Phe)	FOXD4L5 (L17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569420	NM_001126334.1(FOXD4L5):c.26C>T (p.Pro9Leu)	FOXD4L5 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544385	NM_001126334.1(FOXD4L5):c.335C>T (p.Ser112Leu)	FOXD4L5 (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543168	NM_001126334.1(FOXD4L5):c.740C>T (p.Pro247Leu)	FOXD4L5 (P247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539856	NM_001126334.1(FOXD4L5):c.607C>T (p.Arg203Cys)	FOXD4L5 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533457	NM_001126334.1(FOXD4L5):c.509C>T (p.Pro170Leu)	FOXD4L5 (P170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531191	NM_001126334.1(FOXD4L5):c.752C>A (p.Pro251His)	FOXD4L5 (P251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480845	NM_001126334.1(FOXD4L5):c.479T>C (p.Leu160Pro)	FOXD4L5 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476619	NM_001126334.1(FOXD4L5):c.324G>T (p.Lys108Asn)	FOXD4L5 (K108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476088	NM_001126334.1(FOXD4L5):c.462C>A (p.Asn154Lys)	FOXD4L5 (N154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473693	NM_001126334.1(FOXD4L5):c.596G>A (p.Arg199Gln)	FOXD4L5 (R199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467046	NM_001126334.1(FOXD4L5):c.1078C>G (p.Gln360Glu)	FOXD4L5 (Q360E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463180	NM_001126334.1(FOXD4L5):c.1237C>G (p.Arg413Gly)	FOXD4L5 (R413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458179	NM_001126334.1(FOXD4L5):c.595C>T (p.Arg199Trp)	FOXD4L5 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458016	NM_001126334.1(FOXD4L5):c.124G>A (p.Glu42Lys)	FOXD4L5 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409556	NM_001126334.1(FOXD4L5):c.28C>T (p.Arg10Cys)	FOXD4L5 (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404400	NM_001126334.1(FOXD4L5):c.1040G>T (p.Arg347Leu)	FOXD4L5 (R347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401816	NM_001126334.1(FOXD4L5):c.150C>A (p.Phe50Leu)	FOXD4L5 (F50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397487	NM_001126334.1(FOXD4L5):c.1187C>G (p.Thr396Arg)	FOXD4L5 (T396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394310	NM_001126334.1(FOXD4L5):c.1112G>C (p.Cys371Ser)	FOXD4L5 (C371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392434	NM_001126334.1(FOXD4L5):c.412A>C (p.Ile138Leu)	FOXD4L5 (I138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389264	NM_001126334.1(FOXD4L5):c.532A>G (p.Lys178Glu)	FOXD4L5 (K178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378147	NM_001126334.1(FOXD4L5):c.1244G>C (p.Arg415Pro)	FOXD4L5 (R415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374290	NM_001126334.1(FOXD4L5):c.1112G>A (p.Cys371Tyr)	FOXD4L5 (C371Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372088	NM_001126334.1(FOXD4L5):c.890C>G (p.Pro297Arg)	FOXD4L5 (P297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369960	NM_001126334.1(FOXD4L5):c.512G>A (p.Arg171His)	FOXD4L5 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363084	NM_001126334.1(FOXD4L5):c.440G>T (p.Arg147Leu)	FOXD4L5 (R147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363049	NM_001126334.1(FOXD4L5):c.472C>T (p.His158Tyr)	FOXD4L5 (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362171	NM_001126334.1(FOXD4L5):c.142C>G (p.Gln48Glu)	FOXD4L5 (Q48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361597	NM_001126334.1(FOXD4L5):c.1187C>T (p.Thr396Met)	FOXD4L5 (T396M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353121	NM_001126334.1(FOXD4L5):c.485T>C (p.Leu162Pro)	FOXD4L5 (L162P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350040	NM_001126334.1(FOXD4L5):c.308C>T (p.Ala103Val)	FOXD4L5 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349910	NM_001126334.1(FOXD4L5):c.853G>A (p.Ala285Thr)	FOXD4L5 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348864	NM_001126334.1(FOXD4L5):c.766G>A (p.Gly256Arg)	FOXD4L5 (G256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348429	NM_001126334.1(FOXD4L5):c.436C>T (p.Arg146Cys)	FOXD4L5 (R146C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347806	NM_001126334.1(FOXD4L5):c.743G>A (p.Gly248Glu)	FOXD4L5 (G248E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345626	NM_001126334.1(FOXD4L5):c.1241G>C (p.Arg414Pro)	FOXD4L5 (R414P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344383	NM_001126334.1(FOXD4L5):c.542A>G (p.Tyr181Cys)	FOXD4L5 (Y181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312979	NM_001126334.1(FOXD4L5):c.32C>T (p.Ser11Phe)	FOXD4L5 (S11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295157	NM_001126334.1(FOXD4L5):c.644T>A (p.Leu215Gln)	FOXD4L5 (L215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288158	NM_001126334.1(FOXD4L5):c.359C>A (p.Ala120Asp)	FOXD4L5 (A120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285819	NM_001126334.1(FOXD4L5):c.104A>T (p.Asp35Val)	FOXD4L5 (D35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282030	NM_001126334.1(FOXD4L5):c.76A>C (p.Lys26Gln)	FOXD4L5 (K26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281772	NM_001126334.1(FOXD4L5):c.310C>T (p.Arg104Trp)	FOXD4L5 (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281508	NM_001126334.1(FOXD4L5):c.469C>A (p.Arg157Ser)	FOXD4L5 (R157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280163	NM_001126334.1(FOXD4L5):c.443A>T (p.Lys148Met)	FOXD4L5 (K148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274111	NM_001126334.1(FOXD4L5):c.515A>T (p.Glu172Val)	FOXD4L5 (E172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253063	NM_001126334.1(FOXD4L5):c.641A>C (p.His214Pro)	FOXD4L5 (H214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244967	NM_001126334.1(FOXD4L5):c.896G>T (p.Cys299Phe)	FOXD4L5 (C299F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222291	NM_001126334.1(FOXD4L5):c.217C>A (p.His73Asn)	FOXD4L5 (H73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222094	NM_001126334.1(FOXD4L5):c.526C>T (p.Pro176Ser)	FOXD4L5 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218733	NM_001126334.1(FOXD4L5):c.298T>C (p.Ser100Pro)	FOXD4L5 (S100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209394	NM_001126334.1(FOXD4L5):c.632C>G (p.Pro211Arg)	FOXD4L5 (P211R)	Single nucleotide variant (missense variant)	not specified	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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 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

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