ZBED5[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	LOC130005321, LOC130005322 +208 more	Copy number loss	See cases	GPathogenic
Select item 2618493	NM_001143667.2(ZBED5):c.1985T>G (p.Leu662Arg)	ZBED5 (L662R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404333	NM_001143667.2(ZBED5):c.1975A>G (p.Arg659Gly)	ZBED5 (R659G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488560	NM_001143667.2(ZBED5):c.1903C>T (p.Leu635Phe)	ZBED5 (L635F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345232	NM_001143667.2(ZBED5):c.1769G>A (p.Arg590Gln)	ZBED5 (R590Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214561	NM_001143667.2(ZBED5):c.1708A>G (p.Asn570Asp)	ZBED5 (N570D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467528	NM_001143667.2(ZBED5):c.1670G>A (p.Arg557His)	ZBED5 (R557H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524249	NM_001143667.2(ZBED5):c.1616C>T (p.Ser539Phe)	ZBED5 (S539F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323193	NM_001143667.2(ZBED5):c.1604C>G (p.Thr535Ser)	ZBED5 (T535S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588420	NM_001143667.2(ZBED5):c.1562A>T (p.Glu521Val)	ZBED5 (E521V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306425	NM_001143667.2(ZBED5):c.1520C>T (p.Ser507Leu)	ZBED5 (S507L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486187	NM_001143667.2(ZBED5):c.1473G>A (p.Met491Ile)	ZBED5 (M491I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641605	NM_001143667.2(ZBED5):c.1008A>G (p.Glu336=)	ZBED5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515673	NM_001143667.2(ZBED5):c.679A>G (p.Met227Val)	ZBED5 (M227V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338496	NM_001143667.2(ZBED5):c.603T>G (p.Ser201Arg)	ZBED5 (S201R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491889	NM_001143667.2(ZBED5):c.593A>G (p.Tyr198Cys)	ZBED5 (Y198C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410721	NM_001143667.2(ZBED5):c.517G>T (p.Asp173Tyr)	ZBED5 (D173Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611041	NM_001143667.2(ZBED5):c.486C>G (p.Asp162Glu)	ZBED5 (D162E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482813	NM_001143667.2(ZBED5):c.454C>A (p.His152Asn)	ZBED5 (H152N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520882	NM_001143667.2(ZBED5):c.380C>T (p.Ala127Val)	ZBED5 (A127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641606	NM_001143667.2(ZBED5):c.270C>G (p.Val90=)	ZBED5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245760	NM_001143667.2(ZBED5):c.82T>A (p.Phe28Ile)	ZBED5 (F28I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287036	NM_001143667.2(ZBED5):c.39C>G (p.Phe13Leu)	ZBED5 (F13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic

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Items: 33