ZNF571[gene] - ClinVar

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Items: 65

	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 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	GUncertain significance
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2325007	NM_016536.5(ZNF571):c.1808A>C (p.Gln603Pro)	ZNF540, ZNF571 +1 more (Q603P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310520	NM_016536.5(ZNF571):c.1770G>C (p.Gln590His)	ZNF540, ZNF571 +1 more (Q590H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306876	NM_016536.5(ZNF571):c.1753C>T (p.Pro585Ser)	ZNF540, ZNF571 +1 more (P585S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375579	NM_016536.5(ZNF571):c.1706G>A (p.Arg569His)	ZNF540, ZNF571 +1 more (R569H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350841	NM_016536.5(ZNF571):c.1702A>G (p.Ser568Gly)	ZNF540, ZNF571 +1 more (S568G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261610	NM_016536.5(ZNF571):c.1675G>C (p.Glu559Gln)	ZNF540, ZNF571 +1 more (E559Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264068	NM_016536.5(ZNF571):c.1649G>A (p.Arg550Lys)	ZNF540, ZNF571 +1 more (R550K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396173	NM_016536.5(ZNF571):c.1621C>T (p.Arg541Cys)	ZNF540, ZNF571 +1 more (R541C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269951	NM_016536.5(ZNF571):c.1561C>A (p.Gln521Lys)	ZNF540, ZNF571 +1 more (Q521K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480416	NM_016536.5(ZNF571):c.1555G>A (p.Glu519Lys)	ZNF540, ZNF571 +1 more (E519K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316135	NM_016536.5(ZNF571):c.1454G>A (p.Arg485His)	ZNF540, ZNF571 +1 more (R485H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379228	NM_016536.5(ZNF571):c.1439G>T (p.Gly480Val)	ZNF540, ZNF571 +1 more (G480V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336563	NM_016536.5(ZNF571):c.1426T>C (p.Cys476Arg)	ZNF540, ZNF571 +1 more (C476R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602370	NM_016536.5(ZNF571):c.1394A>C (p.His465Pro)	ZNF540, ZNF571 +1 more (H465P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196825	NM_016536.5(ZNF571):c.1372C>T (p.Arg458Cys)	ZNF540, ZNF571 +1 more (R458C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352076	NM_016536.5(ZNF571):c.1234A>G (p.Ile412Val)	ZNF540, ZNF571 +1 more (I412V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196824	NM_016536.5(ZNF571):c.1203T>G (p.Ile401Met)	ZNF540, ZNF571 +1 more (I401M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196823	NM_016536.5(ZNF571):c.1172A>G (p.Tyr391Cys)	ZNF540, ZNF571 +1 more (Y391C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383711	NM_016536.5(ZNF571):c.1160G>C (p.Gly387Ala)	ZNF540, ZNF571 +1 more (G387A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365360	NM_016536.5(ZNF571):c.1120C>T (p.Arg374Cys)	ZNF540, ZNF571 +1 more (R374C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340362	NM_016536.5(ZNF571):c.1117T>C (p.Phe373Leu)	ZNF540, ZNF571 +1 more (F373L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196822	NM_016536.5(ZNF571):c.1115T>G (p.Phe372Cys)	ZNF540, ZNF571 +1 more (F372C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196821	NM_016536.5(ZNF571):c.1105G>A (p.Gly369Arg)	ZNF540, ZNF571 +1 more (G369R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591118	NM_016536.5(ZNF571):c.1016A>G (p.Glu339Gly)	ZNF540, ZNF571 +1 more (E339G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787491	NM_016536.5(ZNF571):c.956G>A (p.Gly319Asp)	ZNF540, ZNF571 +1 more (G319D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3196838	NM_016536.5(ZNF571):c.926G>C (p.Cys309Ser)	ZNF540, ZNF571 +1 more (C309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196837	NM_016536.5(ZNF571):c.853G>A (p.Gly285Arg)	ZNF540, ZNF571 +1 more (G285R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507779	NM_016536.5(ZNF571):c.807T>G (p.His269Gln)	ZNF540, ZNF571 +1 more (H269Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330814	NM_016536.5(ZNF571):c.766T>C (p.Cys256Arg)	ZNF540, ZNF571 +1 more (C256R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491259	NM_016536.5(ZNF571):c.752A>G (p.Tyr251Cys)	ZNF540, ZNF571 +1 more (Y251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346764	NM_016536.5(ZNF571):c.704G>T (p.Gly235Val)	ZNF540, ZNF571 +1 more (G235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196835	NM_016536.5(ZNF571):c.700C>T (p.Arg234Cys)	ZNF540, ZNF571 +1 more (R234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196834	NM_016536.5(ZNF571):c.610T>C (p.Phe204Leu)	ZNF540, ZNF571 +1 more (F204L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196833	NM_016536.5(ZNF571):c.566A>C (p.Gln189Pro)	ZNF540, ZNF571 +1 more (Q189P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540945	NM_016536.5(ZNF571):c.545A>G (p.Tyr182Cys)	ZNF540, ZNF571 +1 more (Y182C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223324	NM_016536.5(ZNF571):c.538C>T (p.Pro180Ser)	ZNF540, ZNF571 +1 more (P180S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361256	NM_016536.5(ZNF571):c.468A>C (p.Gln156His)	ZNF540, ZNF571 +1 more (Q156H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455258	NM_016536.5(ZNF571):c.389G>A (p.Arg130Gln)	ZNF540, ZNF571 +1 more (R130Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3196832	NM_016536.5(ZNF571):c.347A>G (p.Glu116Gly)	ZNF540, ZNF571 +1 more (E116G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3196831	NM_016536.5(ZNF571):c.328G>A (p.Val110Ile)	ZNF540, ZNF571 +1 more (V110I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196829	NM_016536.5(ZNF571):c.278A>G (p.Lys93Arg)	ZNF540, ZNF571 +1 more (K93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470720	NM_016536.5(ZNF571):c.278A>T (p.Lys93Ile)	ZNF540, ZNF571 +1 more (K93I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196828	NM_016536.5(ZNF571):c.242T>A (p.Leu81His)	ZNF540, ZNF571 +1 more (L81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196827	NM_016536.5(ZNF571):c.227G>A (p.Arg76His)	ZNF540, ZNF571 +1 more (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384483	NM_016536.5(ZNF571):c.226C>T (p.Arg76Cys)	ZNF540, ZNF571 +1 more (R76C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338421	NM_016536.5(ZNF571):c.219G>A (p.Met73Ile)	ZNF540, ZNF571 +1 more (M73I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276053	NM_016536.5(ZNF571):c.105G>C (p.Met35Ile)	ZNF540, ZNF571 +1 more (M35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517954	NM_016536.5(ZNF571):c.14T>C (p.Leu5Ser)	ZNF540, ZNF571 +1 more (L5S)	Single nucleotide variant (missense variant +1 more)	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 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	ACP7, ACTMAP +434 more	Copy number gain	not provided	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 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

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Items: 65