ZBTB8B[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2549298	NM_001145720.2(ZBTB8B):c.109G>A (p.Ala37Thr)	ZBTB8B (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192216	NM_001145720.2(ZBTB8B):c.236T>C (p.Ile79Thr)	ZBTB8B (I79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334000	NM_001145720.2(ZBTB8B):c.319A>G (p.Met107Val)	ZBTB8B (M107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305908	NM_001145720.2(ZBTB8B):c.472A>T (p.Ser158Cys)	ZBTB8B (S158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553066	NM_001145720.2(ZBTB8B):c.500G>T (p.Gly167Val)	ZBTB8B (G167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302976	NM_001145720.2(ZBTB8B):c.542A>T (p.Glu181Val)	ZBTB8B (E181V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192218	NM_001145720.2(ZBTB8B):c.551A>G (p.Lys184Arg)	ZBTB8B (K184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363486	NM_001145720.2(ZBTB8B):c.677G>C (p.Arg226Pro)	ZBTB8B (R226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351201	NM_001145720.2(ZBTB8B):c.679A>G (p.Ile227Val)	ZBTB8B (I227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334350	NM_001145720.2(ZBTB8B):c.755C>T (p.Pro252Leu)	ZBTB8B (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513252	NM_001145720.2(ZBTB8B):c.772G>A (p.Val258Met)	ZBTB8B (V258M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321247	NM_001145720.2(ZBTB8B):c.812C>T (p.Ala271Val)	ZBTB8B (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378217	NM_001145720.2(ZBTB8B):c.880G>A (p.Asp294Asn)	ZBTB8B (D294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301434	NM_001145720.2(ZBTB8B):c.953T>A (p.Met318Lys)	ZBTB8B (M318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334002	NM_001145720.2(ZBTB8B):c.965A>G (p.Gln322Arg)	ZBTB8B (Q322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301435	NM_001145720.2(ZBTB8B):c.984G>C (p.Glu328Asp)	ZBTB8B (E328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320654	NM_001145720.2(ZBTB8B):c.1081C>T (p.Arg361Cys)	ZBTB8B (R361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601179	NM_001145720.2(ZBTB8B):c.1082G>A (p.Arg361His)	ZBTB8B (R361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192214	NM_001145720.2(ZBTB8B):c.1186C>T (p.Arg396Cys)	ZBTB8B (R396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234371	NM_001145720.2(ZBTB8B):c.1223C>T (p.Thr408Met)	ZBTB8B (T408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280778	NM_001145720.2(ZBTB8B):c.1255G>A (p.Gly419Arg)	ZBTB8B (G419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411231	NM_001145720.2(ZBTB8B):c.1313T>G (p.Met438Arg)	ZBTB8B (M438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192215	NM_001145720.2(ZBTB8B):c.1340C>A (p.Ala447Asp)	ZBTB8B (A447D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243823	NM_001145720.2(ZBTB8B):c.1358A>G (p.Glu453Gly)	ZBTB8B (E453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350376	NM_001145720.2(ZBTB8B):c.1414G>A (p.Asp472Asn)	ZBTB8B (D472N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334001	NM_001145720.2(ZBTB8B):c.1472G>A (p.Arg491Gln)	ZBTB8B (R491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396500	NM_001145720.2(ZBTB8B):c.1484C>T (p.Thr495Met)	ZBTB8B (T495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340110	GRCh37/hg19 1p35.1(chr1:32925002-33084424)x1	ZBTB8A, ZBTB8B	Copy number loss	not provided	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 39