ZBED2[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 2550698	NM_024508.5(ZBED2):c.590C>T (p.Ala197Val)	CD96, ZBED2 (A197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605195	NM_024508.5(ZBED2):c.513G>C (p.Glu171Asp)	CD96, ZBED2 (E171D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191799	NM_024508.5(ZBED2):c.509G>T (p.Arg170Leu)	CD96, ZBED2 (R170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221817	NM_024508.5(ZBED2):c.481C>A (p.Leu161Ile)	CD96, ZBED2 (L161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261919	NM_024508.5(ZBED2):c.409G>A (p.Gly137Ser)	CD96, ZBED2 (G137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191798	NM_024508.5(ZBED2):c.362G>A (p.Arg121His)	CD96, ZBED2 (R121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374755	NM_024508.5(ZBED2):c.361C>G (p.Arg121Gly)	CD96, ZBED2 (R121G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239912	NM_024508.5(ZBED2):c.353C>A (p.Ala118Asp)	CD96, ZBED2 (A118D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486901	NM_024508.5(ZBED2):c.209A>G (p.His70Arg)	CD96, ZBED2 (H70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191797	NM_024508.5(ZBED2):c.157C>T (p.Arg53Trp)	CD96, ZBED2 (R53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191796	NM_024508.5(ZBED2):c.124A>T (p.Met42Leu)	CD96, ZBED2 (M42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598079	NM_024508.5(ZBED2):c.124A>G (p.Met42Val)	CD96, ZBED2 (M42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473217	NM_024508.5(ZBED2):c.110C>G (p.Pro37Arg)	CD96, ZBED2 (P37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624013	NM_024508.5(ZBED2):c.41T>C (p.Met14Thr)	CD96, ZBED2 (M14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562806	GRCh37/hg19 3q13.13-13.2(chr3:110719980-111389974)x3	NECTIN3-AS1, ZBED2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 32