ZNF382[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2396548	NM_032825.5(ZNF382):c.75C>A (p.Asp25Glu)	ZNF382 (D24E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532817	NM_032825.5(ZNF382):c.163A>G (p.Met55Val)	ZNF382 (M54V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301220	NM_032825.5(ZNF382):c.164T>G (p.Met55Arg)	ZNF382 (M55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465240	NM_032825.5(ZNF382):c.170G>A (p.Arg57His)	ZNF382 (R57H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319889	NM_032825.5(ZNF382):c.214C>G (p.Pro72Ala)	ZNF382 (P72A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195438	NM_032825.5(ZNF382):c.238G>T (p.Asp80Tyr)	ZNF382 (D80Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264209	NM_032825.5(ZNF382):c.254A>G (p.Asp85Gly)	ZNF382 (D84G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228891	NM_032825.5(ZNF382):c.336G>C (p.Glu112Asp)	ZNF382 (E111D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195439	NM_032825.5(ZNF382):c.487G>A (p.Asp163Asn)	ZNF382 (D162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335608	NM_032825.5(ZNF382):c.532A>G (p.Lys178Glu)	ZNF382 (K177E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483705	NM_032825.5(ZNF382):c.663C>G (p.Phe221Leu)	ZNF382 (F221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195440	NM_032825.5(ZNF382):c.737G>A (p.Gly246Glu)	ZNF382 (G245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335610	NM_032825.5(ZNF382):c.746T>G (p.Phe249Cys)	ZNF382 (F248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217706	NM_032825.5(ZNF382):c.785T>C (p.Leu262Pro)	ZNF382 (L262P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195441	NM_032825.5(ZNF382):c.851T>C (p.Ile284Thr)	ZNF382 (I284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319652	NM_032825.5(ZNF382):c.860A>C (p.Gln287Pro)	ZNF382 (Q286P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366924	NM_032825.5(ZNF382):c.934A>G (p.Ile312Val)	ZNF382 (I311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270014	NM_032825.5(ZNF382):c.1084C>T (p.Arg362Cys)	ZNF382 (R361C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310057	NM_032825.5(ZNF382):c.1329G>T (p.Lys443Asn)	ZNF382 (K443N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463583	NM_032825.5(ZNF382):c.1420C>T (p.Arg474Cys)	ZNF382 (R473C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195435	NM_032825.5(ZNF382):c.1421G>A (p.Arg474His)	ZNF382 (R474H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542571	NM_032825.5(ZNF382):c.1475A>G (p.Asn492Ser)	ZNF382 (N491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257035	NM_032825.5(ZNF382):c.1483C>G (p.Pro495Ala)	ZNF382 (P495A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335609	NM_032825.5(ZNF382):c.1484C>T (p.Pro495Leu)	ZNF382 (P494L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195436	NM_032825.5(ZNF382):c.1508G>A (p.Arg503Lys)	ZNF382 (R502K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281081	NM_032825.5(ZNF382):c.1600A>G (p.Asn534Asp)	ZNF382 (N533D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195437	NM_032825.5(ZNF382):c.1610T>C (p.Val537Ala)	ZNF382 (V536A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553393	NM_032825.5(ZNF382):c.1643G>A (p.Gly548Glu)	ZNF382 (G548E +1 more)	Single nucleotide variant (missense variant)	not specified	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 2685636	GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1	ZFP14, ZFP82 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 1526662	GRCh37/hg19 19q13.12(chr19:36910874-37705345)	ZNF260, ZNF345 +12 more	Copy number loss	not specified	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44