FBXW9[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 2290124	NM_032301.3(FBXW9):c.1354G>C (p.Glu452Gln)	FBXW9 (E452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519877	NM_032301.3(FBXW9):c.1346T>G (p.Leu449Arg)	FBXW9 (L449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608483	NM_032301.3(FBXW9):c.1235G>A (p.Arg412Gln)	FBXW9 (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234091	NM_032301.3(FBXW9):c.1159G>T (p.Gly387Cys)	FBXW9 (G387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507935	NM_032301.3(FBXW9):c.1121G>A (p.Arg374His)	FBXW9 (R374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457231	NM_032301.3(FBXW9):c.1120C>T (p.Arg374Cys)	FBXW9 (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093895	NM_032301.3(FBXW9):c.1113C>G (p.Phe371Leu)	FBXW9 (F371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240359	NM_032301.3(FBXW9):c.1036G>A (p.Asp346Asn)	FBXW9 (D346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093894	NM_032301.3(FBXW9):c.1025G>A (p.Arg342His)	FBXW9 (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093893	NM_032301.3(FBXW9):c.1024C>T (p.Arg342Cys)	FBXW9 (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093892	NM_032301.3(FBXW9):c.1015G>A (p.Val339Ile)	FBXW9 (V339I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531190	NM_032301.3(FBXW9):c.1015G>T (p.Val339Phe)	FBXW9 (V339F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471663	NM_032301.3(FBXW9):c.1004G>A (p.Arg335Gln)	FBXW9 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093902	NM_032301.3(FBXW9):c.952C>T (p.Arg318Trp)	FBXW9 (R318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620699	NM_032301.3(FBXW9):c.952C>G (p.Arg318Gly)	FBXW9 (R318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278007	NM_032301.3(FBXW9):c.944C>T (p.Ala315Val)	FBXW9 (A315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093901	NM_032301.3(FBXW9):c.850T>C (p.Tyr284His)	FBXW9 (Y284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278250	NM_032301.3(FBXW9):c.848C>T (p.Thr283Ile)	FBXW9 (T283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338085	NM_032301.3(FBXW9):c.818C>A (p.Ser273Tyr)	FBXW9 (S273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524685	NM_032301.3(FBXW9):c.764C>T (p.Ala255Val)	FBXW9 (A255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307715	NM_032301.3(FBXW9):c.712C>T (p.Arg238Cys)	FBXW9 (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264053	NM_032301.3(FBXW9):c.653G>A (p.Gly218Asp)	FBXW9 (G218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389457	NM_032301.3(FBXW9):c.643A>C (p.Lys215Gln)	FBXW9 (K215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330385	NM_032301.3(FBXW9):c.631C>A (p.Gln211Lys)	FBXW9 (Q211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387509	NM_032301.3(FBXW9):c.622G>C (p.Glu208Gln)	FBXW9 (E208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278248	NM_032301.3(FBXW9):c.620C>T (p.Thr207Met)	FBXW9 (T207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093900	NM_032301.3(FBXW9):c.583C>T (p.Arg195Cys)	FBXW9 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608484	NM_032301.3(FBXW9):c.581A>G (p.Asp194Gly)	FBXW9 (D194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373020	NM_032301.3(FBXW9):c.569C>T (p.Ser190Leu)	FBXW9 (S190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093899	NM_032301.3(FBXW9):c.481C>T (p.Arg161Cys)	FBXW9 (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277078	NM_032301.3(FBXW9):c.464G>T (p.Arg155Leu)	FBXW9 (R155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093897	NM_032301.3(FBXW9):c.433G>A (p.Ala145Thr)	FBXW9 (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278249	NM_032301.3(FBXW9):c.385C>T (p.Arg129Cys)	FBXW9 (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093896	NM_032301.3(FBXW9):c.347A>C (p.Asp116Ala)	FBXW9 (D116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237501	NM_032301.3(FBXW9):c.265G>C (p.Glu89Gln)	FBXW9 (E89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544464	NM_032301.3(FBXW9):c.247C>A (p.Pro83Thr)	FBXW9 (P83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492924	NM_032301.3(FBXW9):c.210G>C (p.Arg70Ser)	FBXW9 (R70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348812	NM_032301.3(FBXW9):c.56A>C (p.Asp19Ala)	FBXW9 (D19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315164	NM_032301.3(FBXW9):c.7C>T (p.Leu3Phe)	FBXW9, LOC130063654 (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 65