"Ambry Genetics"[submitter] AND "ZNF484"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2265522	NM_031486.4(ZNF484):c.2536C>A (p.Gln846Lys)	ZNF484 (Q810K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226868	NM_031486.4(ZNF484):c.2488G>C (p.Val830Leu)	ZNF484 (V832L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343175	NM_031486.4(ZNF484):c.2419A>G (p.Ser807Gly)	ZNF484 (S771G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621155	NM_031486.4(ZNF484):c.2408C>T (p.Pro803Leu)	ZNF484 (P803L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233455	NM_031486.4(ZNF484):c.2405A>C (p.Lys802Thr)	ZNF484 (K804T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288855	NM_031486.4(ZNF484):c.2332T>C (p.Cys778Arg)	ZNF484 (C780R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412275	NM_031486.4(ZNF484):c.2327A>G (p.Tyr776Cys)	ZNF484 (Y740C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374155	NM_031486.4(ZNF484):c.2125A>G (p.Met709Val)	ZNF484 (M673V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496580	NM_031486.4(ZNF484):c.1929G>C (p.Lys643Asn)	ZNF484 (K607N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461888	NM_031486.4(ZNF484):c.1742T>G (p.Val581Gly)	ZNF484 (V581G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319554	NM_031486.4(ZNF484):c.1704T>A (p.Ser568Arg)	ZNF484 (S568R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291929	NM_031486.4(ZNF484):c.1670G>C (p.Cys557Ser)	ZNF484 (C521S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599211	NM_031486.4(ZNF484):c.1379G>A (p.Arg460Gln)	ZNF484 (R460Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280032	NM_031486.4(ZNF484):c.1334G>C (p.Cys445Ser)	ZNF484 (C445S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607410	NM_031486.4(ZNF484):c.1285A>G (p.Thr429Ala)	ZNF484 (T429A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547711	NM_031486.4(ZNF484):c.1237G>A (p.Val413Ile)	ZNF484 (V377I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470133	NM_031486.4(ZNF484):c.952C>G (p.Arg318Gly)	ZNF484 (R318G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488494	NM_031486.4(ZNF484):c.871A>G (p.Lys291Glu)	ZNF484 (K255E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225639	NM_031486.4(ZNF484):c.864C>G (p.Phe288Leu)	ZNF484 (F290L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606465	NM_031486.4(ZNF484):c.848A>T (p.Glu283Val)	ZNF484 (E300V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601540	NM_031486.4(ZNF484):c.830A>G (p.Lys277Arg)	ZNF484 (K241R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274774	NM_031486.4(ZNF484):c.809A>G (p.Glu270Gly)	ZNF484 (E287G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454857	NM_031486.4(ZNF484):c.808G>A (p.Glu270Lys)	ZNF484 (E270K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467435	NM_031486.4(ZNF484):c.785C>T (p.Pro262Leu)	ZNF484 (P226L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380950	NM_031486.4(ZNF484):c.769G>A (p.Val257Ile)	ZNF484 (V259I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287770	NM_031486.4(ZNF484):c.749T>C (p.Leu250Pro)	ZNF484 (L250P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282983	NM_031486.4(ZNF484):c.399C>A (p.Asn133Lys)	ZNF484 (N150K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359007	NM_031486.4(ZNF484):c.273G>A (p.Met91Ile)	ZNF484 (M55I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466867	NM_031486.4(ZNF484):c.257C>T (p.Pro86Leu)	ZNF484 (P88L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214633	NM_031486.4(ZNF484):c.245T>A (p.Ile82Asn)	ZNF484 (I46N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598221	NM_031486.4(ZNF484):c.230G>A (p.Arg77His)	ZNF484 (R41H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2348022	NM_031486.4(ZNF484):c.229C>T (p.Arg77Cys)	ZNF484 (R41C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2590341	NM_031486.4(ZNF484):c.169A>T (p.Ile57Phe)	ZNF484 (I74F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542829	NM_031486.4(ZNF484):c.158A>G (p.Lys53Arg)	ZNF484 (K17R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 34