CEBPZOS[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2478523	NM_005760.3(CEBPZ):c.3122A>G (p.Lys1041Arg)	CEBPZ, CEBPZOS (K1041R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309070	NM_005760.3(CEBPZ):c.3108A>C (p.Lys1036Asn)	CEBPZOS, CEBPZ (K1036N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398507	NM_005760.3(CEBPZ):c.2997G>A (p.Met999Ile)	CEBPZ, CEBPZOS (M999I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275741	NM_005760.3(CEBPZ):c.2990T>C (p.Ile997Thr)	CEBPZ, CEBPZOS (I997T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2283029	NM_005760.3(CEBPZ):c.2847A>C (p.Lys949Asn)	CEBPZ, CEBPZOS (K949N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370585	NM_005760.3(CEBPZ):c.2716A>G (p.Met906Val)	CEBPZ, CEBPZOS (M906V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590769	NM_005760.3(CEBPZ):c.2655T>G (p.Asp885Glu)	CEBPZ, CEBPZOS (D885E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251246	NM_005760.3(CEBPZ):c.2636A>G (p.Asp879Gly)	CEBPZ, CEBPZOS (D879G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609542	NM_005760.3(CEBPZ):c.2635G>A (p.Asp879Asn)	CEBPZ, CEBPZOS (D879N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594417	NM_005760.3(CEBPZ):c.2587G>A (p.Asp863Asn)	CEBPZ, CEBPZOS (D863N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487865	NM_005760.3(CEBPZ):c.2425G>A (p.Val809Met)	CEBPZ, CEBPZOS +1 more (V809M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589253	NM_005760.3(CEBPZ):c.2369G>A (p.Arg790His)	CEBPZ, CEBPZOS (R790H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance