ZBED5[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +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)	not specified	GUncertain significance
Select item 2404333	NM_001143667.2(ZBED5):c.1975A>G (p.Arg659Gly)	ZBED5 (R659G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191830	NM_001143667.2(ZBED5):c.1973A>G (p.Tyr658Cys)	ZBED5 (Y658C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191829	NM_001143667.2(ZBED5):c.1937C>T (p.Thr646Met)	ZBED5 (T646M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191828	NM_001143667.2(ZBED5):c.1925A>G (p.His642Arg)	ZBED5 (H642R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488560	NM_001143667.2(ZBED5):c.1903C>T (p.Leu635Phe)	ZBED5 (L635F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333822	NM_001143667.2(ZBED5):c.1895T>C (p.Val632Ala)	ZBED5 (V632A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345232	NM_001143667.2(ZBED5):c.1769G>A (p.Arg590Gln)	ZBED5 (R590Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191827	NM_001143667.2(ZBED5):c.1709A>G (p.Asn570Ser)	ZBED5 (N570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214561	NM_001143667.2(ZBED5):c.1708A>G (p.Asn570Asp)	ZBED5 (N570D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467528	NM_001143667.2(ZBED5):c.1670G>A (p.Arg557His)	ZBED5 (R557H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333820	NM_001143667.2(ZBED5):c.1669C>T (p.Arg557Cys)	ZBED5 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524249	NM_001143667.2(ZBED5):c.1616C>T (p.Ser539Phe)	ZBED5 (S539F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191825	NM_001143667.2(ZBED5):c.1608A>T (p.Glu536Asp)	ZBED5 (E536D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323193	NM_001143667.2(ZBED5):c.1604C>G (p.Thr535Ser)	ZBED5 (T535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588420	NM_001143667.2(ZBED5):c.1562A>T (p.Glu521Val)	ZBED5 (E521V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306425	NM_001143667.2(ZBED5):c.1520C>T (p.Ser507Leu)	ZBED5 (S507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191824	NM_001143667.2(ZBED5):c.1516T>A (p.Ser506Thr)	ZBED5 (S506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486187	NM_001143667.2(ZBED5):c.1473G>A (p.Met491Ile)	ZBED5 (M491I)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2338496	NM_001143667.2(ZBED5):c.603T>G (p.Ser201Arg)	ZBED5 (S201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191836	NM_001143667.2(ZBED5):c.596A>G (p.Asn199Ser)	ZBED5 (N199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491889	NM_001143667.2(ZBED5):c.593A>G (p.Tyr198Cys)	ZBED5 (Y198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191834	NM_001143667.2(ZBED5):c.538C>A (p.Pro180Thr)	ZBED5 (P180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333824	NM_001143667.2(ZBED5):c.530A>G (p.Asn177Ser)	ZBED5 (N177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410721	NM_001143667.2(ZBED5):c.517G>T (p.Asp173Tyr)	ZBED5 (D173Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191833	NM_001143667.2(ZBED5):c.494T>G (p.Ile165Arg)	ZBED5 (I165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611041	NM_001143667.2(ZBED5):c.486C>G (p.Asp162Glu)	ZBED5 (D162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482813	NM_001143667.2(ZBED5):c.454C>A (p.His152Asn)	ZBED5 (H152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191832	NM_001143667.2(ZBED5):c.446T>G (p.Leu149Arg)	ZBED5 (L149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520882	NM_001143667.2(ZBED5):c.380C>T (p.Ala127Val)	ZBED5 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333823	NM_001143667.2(ZBED5):c.313C>A (p.Pro105Thr)	ZBED5 (P105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333821	NM_001143667.2(ZBED5):c.277A>C (p.Ile93Leu)	ZBED5 (I93L)	Single nucleotide variant (missense variant)	not specified	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 3191831	NM_001143667.2(ZBED5):c.220C>A (p.Gln74Lys)	ZBED5 (Q74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245760	NM_001143667.2(ZBED5):c.82T>A (p.Phe28Ile)	ZBED5 (F28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287036	NM_001143667.2(ZBED5):c.39C>G (p.Phe13Leu)	ZBED5 (F13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +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	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 49