FBXW12[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2556155	NM_207102.2(FBXW12):c.55C>A (p.Leu19Met)	FBXW12 (L19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093837	NM_207102.2(FBXW12):c.61G>A (p.Gly21Ser)	FBXW12 (G21S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3278219	NM_207102.2(FBXW12):c.191C>A (p.Thr64Lys)	FBXW12 (T45K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235859	NM_207102.2(FBXW12):c.199C>A (p.Gln67Lys)	FBXW12 (Q67K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093833	NM_207102.2(FBXW12):c.251C>T (p.Pro84Leu)	FBXW12 (P65L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093834	NM_207102.2(FBXW12):c.343G>A (p.Glu115Lys)	FBXW12 (E96K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291429	NM_207102.2(FBXW12):c.346A>C (p.Lys116Gln)	FBXW12 (K97Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093835	NM_207102.2(FBXW12):c.379G>C (p.Glu127Gln)	FBXW12 (E108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281546	NM_207102.2(FBXW12):c.394G>C (p.Asp132His)	FBXW12 (D113H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278222	NM_207102.2(FBXW12):c.407G>C (p.Gly136Ala)	FBXW12 (G117A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474355	NM_207102.2(FBXW12):c.471G>T (p.Gln157His)	FBXW12 (Q138H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093836	NM_207102.2(FBXW12):c.486C>G (p.Ile162Met)	FBXW12 (I143M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653786	NM_207102.2(FBXW12):c.556A>G (p.Met186Val)	FBXW12 (M167V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3278220	NM_207102.2(FBXW12):c.577A>C (p.Met193Leu)	FBXW12 (M193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518199	NM_207102.2(FBXW12):c.617T>C (p.Val206Ala)	FBXW12 (V136A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278218	NM_207102.2(FBXW12):c.737T>C (p.Val246Ala)	FBXW12 (V176A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298166	NM_207102.2(FBXW12):c.754T>C (p.Tyr252His)	FBXW12 (Y252H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093838	NM_207102.2(FBXW12):c.760C>T (p.Arg254Cys)	FBXW12 (R254C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278221	NM_207102.2(FBXW12):c.764C>T (p.Thr255Ile)	FBXW12 (T185I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2653787	NM_207102.2(FBXW12):c.840A>G (p.Pro280=)	FBXW12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618091	NM_207102.2(FBXW12):c.845A>C (p.Lys282Thr)	FBXW12 (K282T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618092	NM_207102.2(FBXW12):c.846A>C (p.Lys282Asn)	FBXW12 (K263N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093839	NM_207102.2(FBXW12):c.884A>C (p.Asn295Thr)	FBXW12 (N276T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406133	NM_207102.2(FBXW12):c.938C>T (p.Thr313Ile)	FBXW12 (T313I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093840	NM_207102.2(FBXW12):c.970C>A (p.Gln324Lys)	FBXW12 (Q324K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322041	NM_207102.2(FBXW12):c.1033A>G (p.Ile345Val)	FBXW12 (I275V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529260	NM_207102.2(FBXW12):c.1064T>A (p.Ile355Asn)	FBXW12 (I355N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495079	NM_207102.2(FBXW12):c.1135C>A (p.His379Asn)	FBXW12 (H309N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315016	NM_207102.2(FBXW12):c.1145C>A (p.Ala382Asp)	FBXW12 (A312D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546156	NM_207102.2(FBXW12):c.1169C>T (p.Pro390Leu)	FBXW12 (P320L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093830	NM_207102.2(FBXW12):c.1232G>T (p.Arg411Leu)	FBXW12 (R341L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278217	NM_207102.2(FBXW12):c.1310T>C (p.Val437Ala)	FBXW12 (V418A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278223	NM_207102.2(FBXW12):c.1351G>A (p.Val451Ile)	FBXW12 (V451I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317001	NM_207102.2(FBXW12):c.1375A>T (p.Met459Leu)	FBXW12 (M440L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093831	NM_207102.2(FBXW12):c.1377G>A (p.Met459Ile)	FBXW12 (M389I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 45