ZBTB32[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 2293204	NM_014383.3(ZBTB32):c.178T>C (p.Trp60Arg)	LOC130064255, ZBTB32 (W60R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602989	NM_014383.3(ZBTB32):c.202C>T (p.Pro68Ser)	ZBTB32 (P68S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353569	NM_014383.3(ZBTB32):c.287C>T (p.Ala96Val)	ZBTB32 (A96V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326672	NM_014383.3(ZBTB32):c.338G>A (p.Arg113Gln)	ZBTB32 (R113Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343516	NM_014383.3(ZBTB32):c.400C>A (p.Pro134Thr)	ZBTB32 (P134T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307541	NM_014383.3(ZBTB32):c.418A>G (p.Arg140Gly)	ZBTB32 (R140G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556435	NM_014383.3(ZBTB32):c.459G>T (p.Gln153His)	ZBTB32 (Q153H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297728	NM_014383.3(ZBTB32):c.554A>G (p.Gln185Arg)	ZBTB32 (Q185R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245761	NM_014383.3(ZBTB32):c.577G>A (p.Glu193Lys)	ZBTB32 (E193K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520617	NM_014383.3(ZBTB32):c.601G>A (p.Gly201Ser)	ZBTB32 (G201S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462225	NM_014383.3(ZBTB32):c.631G>T (p.Val211Leu)	ZBTB32 (V211L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547449	NM_014383.3(ZBTB32):c.718C>A (p.Gln240Lys)	ZBTB32 (Q240K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318604	NM_014383.3(ZBTB32):c.806C>T (p.Pro269Leu)	ZBTB32 (P269L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328084	NM_014383.3(ZBTB32):c.872G>A (p.Arg291Gln)	ZBTB32 (R14Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2600710	NM_014383.3(ZBTB32):c.1048C>T (p.His350Tyr)	ZBTB32 (H18Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550774	NM_014383.3(ZBTB32):c.1079C>G (p.Pro360Arg)	ZBTB32 (P28R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547086	NM_014383.3(ZBTB32):c.1079C>T (p.Pro360Leu)	ZBTB32 (P83L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385004	NM_014383.3(ZBTB32):c.1082A>C (p.His361Pro)	ZBTB32 (H29P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251172	NM_014383.3(ZBTB32):c.1109C>G (p.Ser370Cys)	ZBTB32 (S370C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383400	NM_014383.3(ZBTB32):c.1121C>A (p.Ala374Glu)	ZBTB32 (A374E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491087	NM_014383.3(ZBTB32):c.1219C>T (p.Pro407Ser)	ZBTB32 (P130S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383105	NM_014383.3(ZBTB32):c.1280C>G (p.Pro427Arg)	ZBTB32 (P95R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385378	NM_014383.3(ZBTB32):c.1300G>C (p.Gly434Arg)	ZBTB32 (G157R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2369745	NM_014383.3(ZBTB32):c.1304C>T (p.Ala435Val)	ZBTB32 (A158V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595710	NM_014383.3(ZBTB32):c.1459A>C (p.Thr487Pro)	ZBTB32 (T155P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395360	GRCh37/hg19 19q13.12(chr19:36166726-36207146)x3	UPK1A, ZBTB32	Copy number gain	See cases	GUncertain significance

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Items: 42