ClinVar for Gene (Select 148268) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258717	NM_144694.5(ZNF570):c.1582C>T (p.Pro528Ser)	ZNF570 (P325S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258716	NM_144694.5(ZNF570):c.1568A>G (p.Glu523Gly)	ZNF570 (E320G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196819	NM_144694.5(ZNF570):c.974C>T (p.Thr325Met)	ZNF570 (T283M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196818	NM_144694.5(ZNF570):c.923G>A (p.Arg308Gln)	ZNF570 (R308Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196817	NM_144694.5(ZNF570):c.919T>C (p.Cys307Arg)	ZNF570 (C265R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196816	NM_144694.5(ZNF570):c.790C>T (p.His264Tyr)	ZNF570 (H222Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196815	NM_144694.5(ZNF570):c.616A>G (p.Ile206Val)	ZNF570 (I262V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196814	NM_144694.5(ZNF570):c.379G>C (p.Glu127Gln)	ZNF570 (E127Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196813	NM_144694.5(ZNF570):c.357C>G (p.Asn119Lys)	ZNF570 (N119K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196812	NM_144694.5(ZNF570):c.296A>G (p.Lys99Arg)	ZNF570 (K155R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196811	NM_144694.5(ZNF570):c.182G>A (p.Ser61Asn)	ZNF570 (S117N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196810	NM_144694.5(ZNF570):c.1556T>G (p.Ile519Ser)	ZNF570 (I575S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196808	NM_144694.5(ZNF570):c.1279G>A (p.Ala427Thr)	ZNF570 (A483T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196807	NM_144694.5(ZNF570):c.1025G>T (p.Arg342Ile)	ZNF570 (R139I +3 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 2649773	NM_144694.5(ZNF570):c.732A>G (p.Lys244=)	ZNF570	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606393	NM_144694.5(ZNF570):c.1385G>A (p.Arg462Gln)	ZNF570 (R259Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551511	NM_144694.5(ZNF570):c.812A>G (p.Glu271Gly)	ZNF570 (E229G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517725	NM_144694.5(ZNF570):c.960T>G (p.His320Gln)	ZNF570 (H117Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487942	NM_144694.5(ZNF570):c.607T>A (p.Leu203Ile)	ZNF570 (L259I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400796	NM_144694.5(ZNF570):c.1504G>A (p.Glu502Lys)	ZNF570 (E299K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339002	NM_144694.5(ZNF570):c.1548C>A (p.His516Gln)	ZNF570 (H572Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335222	NM_144694.5(ZNF570):c.53A>G (p.Asp18Gly)	ZNF570 (D18G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333730	NM_144694.5(ZNF570):c.803A>G (p.His268Arg)	ZNF570 (H268R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307291	NM_144694.5(ZNF570):c.1521C>G (p.Phe507Leu)	ZNF570 (F304L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302585	NM_144694.5(ZNF570):c.1069C>T (p.Pro357Ser)	ZNF570 (P154S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294643	NM_144694.5(ZNF570):c.1144G>A (p.Gly382Arg)	ZNF570 (G179R +3 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 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

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Links from Gene

Items: 43