CEBPD[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 151956	GRCh38/hg38 8q11.21(chr8:47701537-47918282)x3	CEBPD, LOC121740717 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2338965	NM_005195.4(CEBPD):c.754A>G (p.Lys252Glu)	CEBPD (K252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487076	NM_005195.4(CEBPD):c.742C>T (p.Arg248Trp)	CEBPD (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616047	NM_005195.4(CEBPD):c.737G>A (p.Gly246Asp)	CEBPD (G246D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265692	NM_005195.4(CEBPD):c.717G>C (p.Gln239His)	CEBPD (Q239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226487	NM_005195.4(CEBPD):c.707G>A (p.Arg236His)	CEBPD (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141867	NM_005195.4(CEBPD):c.655A>G (p.Met219Val)	CEBPD (M219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238747	NM_005195.4(CEBPD):c.650A>G (p.Gln217Arg)	CEBPD (Q217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141866	NM_005195.4(CEBPD):c.604A>C (p.Asn202His)	CEBPD (N202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614453	NM_005195.4(CEBPD):c.597G>C (p.Glu199Asp)	CEBPD (E199D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141865	NM_005195.4(CEBPD):c.568G>C (p.Gly190Arg)	CEBPD (G190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141864	NM_005195.4(CEBPD):c.529G>A (p.Ala177Thr)	CEBPD (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386504	NM_005195.4(CEBPD):c.520C>A (p.Pro174Thr)	CEBPD (P174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372834	NM_005195.4(CEBPD):c.518C>T (p.Ala173Val)	CEBPD (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360537	NM_005195.4(CEBPD):c.512C>A (p.Thr171Asn)	CEBPD (T171N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367192	NM_005195.4(CEBPD):c.505A>G (p.Arg169Gly)	CEBPD (R169G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265696	NM_005195.4(CEBPD):c.410C>T (p.Ala137Val)	CEBPD (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361060	NM_005195.4(CEBPD):c.395G>A (p.Gly132Asp)	CEBPD (G132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522907	NM_005195.4(CEBPD):c.394G>A (p.Gly132Ser)	CEBPD (G132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376561	NM_005195.4(CEBPD):c.389C>T (p.Ala130Val)	CEBPD (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598098	NM_005195.4(CEBPD):c.346C>G (p.Pro116Ala)	CEBPD (P116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141863	NM_005195.4(CEBPD):c.335G>A (p.Gly112Asp)	CEBPD (G112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389553	NM_005195.4(CEBPD):c.293T>G (p.Leu98Arg)	CEBPD (L98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348340	NM_005195.4(CEBPD):c.273G>C (p.Lys91Asn)	CEBPD (K91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592674	NM_005195.4(CEBPD):c.266A>G (p.Asn89Ser)	CEBPD (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206425	NM_005195.4(CEBPD):c.224A>G (p.Glu75Gly)	CEBPD (E75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265694	NM_005195.4(CEBPD):c.187G>A (p.Ala63Thr)	CEBPD (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357170	NM_005195.4(CEBPD):c.187G>T (p.Ala63Ser)	CEBPD (A63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250184	NM_005195.4(CEBPD):c.163G>A (p.Asp55Asn)	CEBPD (D55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259577	NM_005195.4(CEBPD):c.146C>T (p.Ala49Val)	CEBPD (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265693	NM_005195.4(CEBPD):c.73T>C (p.Tyr25His)	CEBPD (Y25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317097	NM_005195.4(CEBPD):c.35C>G (p.Ala12Gly)	CEBPD (A12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684539	GRCh37/hg19 8q11.21(chr8:48646558-49004354)x3	CEBPD, MCM4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684538	GRCh37/hg19 8q11.21(chr8:48570047-48787917)x3	CEBPD, PRKDC +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684537	GRCh37/hg19 8p11.1-q11.21(chr8:43312712-48892709)x3	CEBPD, LINC00293 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527430	GRCh37/hg19 8q11.21(chr8:48587984-48780185)	CEBPD, PRKDC +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527429	GRCh37/hg19 8q11.1-11.21(chr8:46912309-50818801)	CEBPD, CLXN +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527428	GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095)	CEBPD, CHRNA6 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1341316	GRCh37/hg19 8q11.21(chr8:48336764-48752512)x1	CEBPD, PRKDC +1 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 662275	NC_000008.10:g.(?_48270390)_(49987806_?)del	PPDPFL, PRKDC +6 more	Deletion	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 563475	GRCh37/hg19 8q11.21(chr8:48609394-48892709)x3	PRKDC, MCM4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance

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Items: 69