CEBPB[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3141862	NM_005194.4(CEBPB):c.43C>T (p.Pro15Ser)	CEBPB, CEBPB-AS1 (P15S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 744842	NM_005194.4(CEBPB):c.45G>A (p.Pro15=)	CEBPB, CEBPB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3141859	NM_005194.4(CEBPB):c.115G>A (p.Ala39Thr)	CEBPB, CEBPB-AS1 (A16T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359687	NM_005194.4(CEBPB):c.146C>T (p.Pro49Leu)	CEBPB, CEBPB-AS1 (P26L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141860	NM_005194.4(CEBPB):c.159A>C (p.Arg53Ser)	CEBPB, CEBPB-AS1 (R30S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471607	NM_005194.4(CEBPB):c.258G>C (p.Gln86His)	CEBPB, CEBPB-AS1 +1 more (Q63H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2380191	NM_005194.4(CEBPB):c.284A>C (p.Asp95Ala)	CEBPB, CEBPB-AS1 +1 more (D72A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2615844	NM_005194.4(CEBPB):c.317C>A (p.Pro106His)	CEBPB, CEBPB-AS1 +1 more (P106H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3141861	NM_005194.4(CEBPB):c.373G>A (p.Asp125Asn)	CEBPB, CEBPB-AS1 +1 more (D102N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2484815	NM_005194.4(CEBPB):c.374A>G (p.Asp125Gly)	CEBPB, CEBPB-AS1 +1 more (D102G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2249608	NM_005194.4(CEBPB):c.493C>G (p.Pro165Ala)	CEBPB, CEBPB-AS1 +1 more (P142A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360127	NM_005194.4(CEBPB):c.506C>T (p.Pro169Leu)	CEBPB, CEBPB-AS1 +1 more (P169L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256637	NM_005194.4(CEBPB):c.578C>G (p.Pro193Arg)	CEBPB, CEBPB-AS1 +1 more (P170R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612479	NM_005194.4(CEBPB):c.722C>T (p.Ala241Val)	CEBPB, CEBPB-AS1 (A218V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514064	NM_005194.4(CEBPB):c.749C>T (p.Ala250Val)	CEBPB, CEBPB-AS1 (A52V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2325958	NM_005194.4(CEBPB):c.761C>G (p.Pro254Arg)	CEBPB, CEBPB-AS1 (P231R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2212317	NM_005194.4(CEBPB):c.893A>G (p.Glu298Gly)	CEBPB, CEBPB-AS1 (E100G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 28