FBXO42[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 2288679	NM_018994.3(FBXO42):c.2141G>A (p.Arg714Gln)	FBXO42 (R714Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495721	NM_018994.3(FBXO42):c.2080C>T (p.Leu694Phe)	FBXO42 (L694F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093749	NM_018994.3(FBXO42):c.1990G>A (p.Val664Ile)	FBXO42 (V664I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304662	NM_018994.3(FBXO42):c.1916T>C (p.Met639Thr)	FBXO42 (M639T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093748	NM_018994.3(FBXO42):c.1724C>T (p.Ala575Val)	FBXO42 (A575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208645	NM_018994.3(FBXO42):c.1651G>A (p.Val551Ile)	FBXO42 (V551I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269546	NM_018994.3(FBXO42):c.1618C>T (p.Pro540Ser)	FBXO42 (P540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496254	NM_018994.3(FBXO42):c.1613A>G (p.His538Arg)	FBXO42 (H538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607910	NM_018994.3(FBXO42):c.1441T>C (p.Ser481Pro)	FBXO42 (S481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270211	NM_018994.3(FBXO42):c.1418G>C (p.Gly473Ala)	FBXO42 (G473A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093747	NM_018994.3(FBXO42):c.1303G>A (p.Gly435Ser)	FBXO42 (G435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093746	NM_018994.3(FBXO42):c.1273G>A (p.Glu425Lys)	FBXO42 (E425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408946	NM_018994.3(FBXO42):c.1270C>T (p.Arg424Trp)	FBXO42 (R424W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234918	NM_018994.3(FBXO42):c.1100G>A (p.Ser367Asn)	FBXO42 (S367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454473	NM_018994.3(FBXO42):c.1037G>A (p.Arg346Gln)	FBXO42 (R346Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484747	NM_018994.3(FBXO42):c.958G>A (p.Gly320Ser)	FBXO42 (G320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515561	NM_018994.3(FBXO42):c.949A>G (p.Met317Val)	FBXO42 (M317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093753	NM_018994.3(FBXO42):c.832C>T (p.Pro278Ser)	FBXO42 (P278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093752	NM_018994.3(FBXO42):c.776A>G (p.Asp259Gly)	FBXO42 (D259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211371	NM_018994.3(FBXO42):c.556C>A (p.Leu186Ile)	FBXO42 (L186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376512	NM_018994.3(FBXO42):c.541G>A (p.Val181Met)	FBXO42 (V181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093750	NM_018994.3(FBXO42):c.230A>G (p.Gln77Arg)	FBXO42 (Q77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518445	NM_018994.3(FBXO42):c.212C>T (p.Ala71Val)	FBXO42 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205500	NM_018994.3(FBXO42):c.143C>T (p.Ser48Leu)	FBXO42 (S48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304437	NM_018994.3(FBXO42):c.92A>C (p.Glu31Ala)	FBXO42 (E31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093751	NM_018994.3(FBXO42):c.34T>C (p.Phe12Leu)	FBXO42 (F12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 686997	GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1	ARHGEF19, CLCNKA +12 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50