ClinVar for Gene (Select 148266) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258707	NM_152484.3(ZNF569):c.189A>C (p.Glu63Asp)	ZNF569 (E63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258706	NM_152484.3(ZNF569):c.890C>T (p.Pro297Leu)	ZNF569 (P138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258705	NM_152484.3(ZNF569):c.2024C>T (p.Ser675Leu)	ZNF569 (S516L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196795	NM_152484.3(ZNF569):c.344G>A (p.Cys115Tyr)	ZNF569 (C115Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196794	NM_152484.3(ZNF569):c.343T>C (p.Cys115Arg)	ZNF569 (C115R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196793	NM_152484.3(ZNF569):c.1985A>G (p.Tyr662Cys)	ZNF569 (Y503C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196792	NM_152484.3(ZNF569):c.1903G>A (p.Asp635Asn)	ZNF569 (D635N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196790	NM_152484.3(ZNF569):c.1445T>C (p.Ile482Thr)	ZNF569 (I323T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196789	NM_152484.3(ZNF569):c.1054A>G (p.Lys352Glu)	ZNF569 (K193E +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 2558565	NM_152484.3(ZNF569):c.1867A>G (p.Ile623Val)	ZNF569 (I464V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547911	NM_152484.3(ZNF569):c.1250A>G (p.Lys417Arg)	ZNF569 (K258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532586	NM_152484.3(ZNF569):c.1141C>T (p.Pro381Ser)	ZNF569 (P222S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513334	NM_152484.3(ZNF569):c.333A>C (p.Lys111Asn)	ZNF569 (K111N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2510560	NM_152484.3(ZNF569):c.1033A>G (p.Met345Val)	ZNF569 (M345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488724	NM_152484.3(ZNF569):c.760A>C (p.Met254Leu)	ZNF569 (M254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402883	NM_152484.3(ZNF569):c.1606T>C (p.Ser536Pro)	ZNF569 (S377P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373529	NM_152484.3(ZNF569):c.1108A>C (p.Ile370Leu)	ZNF569 (I211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366276	NM_152484.3(ZNF569):c.101G>A (p.Arg34Gln)	ZNF569 (R34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356492	NM_152484.3(ZNF569):c.664G>A (p.Ala222Thr)	ZNF569 (A63T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353515	NM_152484.3(ZNF569):c.2048T>C (p.Ile683Thr)	ZNF569 (I683T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323680	NM_152484.3(ZNF569):c.154A>G (p.Thr52Ala)	ZNF569 (T52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311451	NM_152484.3(ZNF569):c.1966C>T (p.His656Tyr)	ZNF569 (H497Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284760	NM_152484.3(ZNF569):c.940A>T (p.Ile314Phe)	ZNF569 (I314F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282013	NM_152484.3(ZNF569):c.231C>G (p.His77Gln)	ZNF569 (H77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278916	NM_152484.3(ZNF569):c.364G>C (p.Val122Leu)	ZNF569 (V122L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2268503	NM_152484.3(ZNF569):c.80C>T (p.Pro27Leu)	ZNF569 (P27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252288	NM_152484.3(ZNF569):c.1615C>T (p.Leu539Phe)	ZNF569 (L380F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235221	NM_152484.3(ZNF569):c.2051A>G (p.His684Arg)	ZNF569 (H525R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219437	NM_152484.3(ZNF569):c.1603G>T (p.Ala535Ser)	ZNF569 (A376S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 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 980762	GRCh37/hg19 19q13.12(chr19:37820377-38083967)x1	ZNF570, ZNF571 +5 more	Copy number loss	not provided	GUncertain significance
Select item 816079	GRCh37/hg19 19q13.12(chr19:37820245-38150396)x3	ZNF875, ZNF569 +6 more	Copy number gain	not provided	GLikely benign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564582	GRCh37/hg19 19q13.12(chr19:37772899-37923531)x1	ZNF527, ZNF875 +1 more	Copy number loss	not provided	GLikely benign
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 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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
Select item 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47