ZBTB1[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 2324626	NM_001123329.2(ZBTB1):c.626C>T (p.Ser209Leu)	HSPA2-AS1, ZBTB1 (S209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254804	NM_001123329.2(ZBTB1):c.739A>T (p.Thr247Ser)	ZBTB1, HSPA2-AS1 (T247S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543308	NM_001123329.2(ZBTB1):c.899G>A (p.Gly300Glu)	HSPA2-AS1, ZBTB1 (G300E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407905	NM_001123329.2(ZBTB1):c.940G>A (p.Glu314Lys)	HSPA2-AS1, ZBTB1 (E314K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487628	NM_001123329.2(ZBTB1):c.1001T>C (p.Ile334Thr)	HSPA2-AS1, ZBTB1 (I334T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227482	NM_001123329.2(ZBTB1):c.1033A>G (p.Ile345Val)	HSPA2-AS1, ZBTB1 (I345V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370502	NM_001123329.2(ZBTB1):c.1250A>G (p.Asp417Gly)	HSPA2-AS1, ZBTB1 (D417G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523700	NM_001123329.2(ZBTB1):c.1272G>C (p.Glu424Asp)	ZBTB1, HSPA2-AS1 (E424D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314585	NM_001123329.2(ZBTB1):c.1505A>G (p.Asp502Gly)	HSPA2-AS1, ZBTB1 (D502G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366282	NM_001123329.2(ZBTB1):c.1506T>G (p.Asp502Glu)	HSPA2-AS1, ZBTB1 (D502E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218122	NM_001123329.2(ZBTB1):c.1509G>A (p.Met503Ile)	ZBTB1, HSPA2-AS1 (M503I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245892	NM_001123329.2(ZBTB1):c.1640A>G (p.Asn547Ser)	ZBTB1, HSPA2-AS1 (N547S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286703	NM_001123329.2(ZBTB1):c.1984A>G (p.Thr662Ala)	ZBTB1, HSPA2-AS1 (T662A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364096	NM_001123329.2(ZBTB1):c.2010A>G (p.Ile670Met)	HSPA2-AS1, ZBTB1 (I670M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 27