ZBTB8A[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 2374016	NM_001040441.3(ZBTB8A):c.64G>A (p.Val22Ile)	ZBTB8A (V22I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376285	NM_001040441.3(ZBTB8A):c.207G>T (p.Gln69His)	ZBTB8A (Q69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228604	NM_001040441.3(ZBTB8A):c.247G>A (p.Val83Ile)	ZBTB8A (V83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595566	NM_001040441.3(ZBTB8A):c.374G>A (p.Ser125Asn)	ZBTB8A (S125N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325048	NM_001040441.3(ZBTB8A):c.430G>C (p.Gly144Arg)	ZBTB8A (G144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375068	NM_001040441.3(ZBTB8A):c.488G>A (p.Arg163His)	ZBTB8A (R163H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2273543	NM_001040441.3(ZBTB8A):c.493C>T (p.His165Tyr)	ZBTB8A (H165Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285044	NM_001040441.3(ZBTB8A):c.527G>A (p.Ser176Asn)	ZBTB8A (S176N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539536	NM_001040441.3(ZBTB8A):c.631A>C (p.Lys211Gln)	ZBTB8A (K211Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515803	NM_001040441.3(ZBTB8A):c.665C>G (p.Thr222Ser)	ZBTB8A (T222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537210	NM_001040441.3(ZBTB8A):c.710C>G (p.Ser237Cys)	ZBTB8A (S237C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392583	NM_001040441.3(ZBTB8A):c.778T>C (p.Tyr260His)	ZBTB8A (Y260H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402658	NM_001040441.3(ZBTB8A):c.811A>G (p.Lys271Glu)	ZBTB8A (K271E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211454	NM_001040441.3(ZBTB8A):c.1163T>C (p.Met388Thr)	ZBTB8A (M388T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397261	NM_001040441.3(ZBTB8A):c.1214A>G (p.Glu405Gly)	ZBTB8A (E405G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 25