ClinVar for Gene (Select 51276) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258724	NM_016536.5(ZNF571):c.170C>G (p.Ser57Cys)	ZNF540, ZNF571 +1 more (S57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258721	NM_016536.5(ZNF571):c.820A>T (p.Ser274Cys)	ZNF540, ZNF571 +1 more (S274C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258720	NM_016536.5(ZNF571):c.893A>G (p.Gln298Arg)	ZNF540, ZNF571 +1 more (Q298R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258719	NM_016536.5(ZNF571):c.38T>C (p.Ile13Thr)	ZNF540, ZNF571 +1 more (I13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258718	NM_016536.5(ZNF571):c.664C>T (p.Pro222Ser)	ZNF540, ZNF571 +1 more (P222S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
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 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 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 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 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 2491259	NM_016536.5(ZNF571):c.752A>G (p.Tyr251Cys)	ZNF571-AS1, ZNF540 +1 more (Y251C)	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 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 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 2396173	NM_016536.5(ZNF571):c.1621C>T (p.Arg541Cys)	ZNF540, ZNF571 +1 more (R541C)	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 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 2379228	NM_016536.5(ZNF571):c.1439G>T (p.Gly480Val)	ZNF571-AS1, ZNF540 +1 more (G480V)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2261610	NM_016536.5(ZNF571):c.1675G>C (p.Glu559Gln)	ZNF571, ZNF571-AS1 +1 more (E559Q)	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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 70