"Ambry Genetics"[submitter] AND "ZNF530"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2353100	NM_001321981.2(ZNF530):c.26T>C (p.Val9Ala)	ZNF530 (V9A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196505	NM_001321981.2(ZNF530):c.30G>C (p.Met10Ile)	ZNF530 (M42I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399015	NM_001321981.2(ZNF530):c.43G>A (p.Ala15Thr)	ZNF530 (A15T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196509	NM_001321981.2(ZNF530):c.109G>A (p.Val37Ile)	ZNF530 (V69I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2221147	NM_001321981.2(ZNF530):c.193C>T (p.Pro65Ser)	ZNF530 (P98S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382899	NM_001321981.2(ZNF530):c.233C>A (p.Ala78Asp)	ZNF530 (A78D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374222	NM_001321981.2(ZNF530):c.277G>A (p.Asp93Asn)	ZNF530 (D93N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196510	NM_001321981.2(ZNF530):c.320A>G (p.Asp107Gly)	ZNF530 (D107G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393693	NM_001321981.2(ZNF530):c.653G>A (p.Ser218Asn)	ZNF530 (S251N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510120	NM_001321981.2(ZNF530):c.734G>A (p.Arg245His)	ZNF530 (R278H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464020	NM_001321981.2(ZNF530):c.815G>T (p.Arg272Leu)	ZNF530 (R304L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225796	NM_001321981.2(ZNF530):c.815G>A (p.Arg272His)	ZNF530 (R305H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299577	NM_001321981.2(ZNF530):c.847G>A (p.Val283Ile)	ZNF530 (V315I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373646	NM_001321981.2(ZNF530):c.917A>G (p.Tyr306Cys)	ZNF530 (Y338C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196503	NM_001321981.2(ZNF530):c.1006C>A (p.His336Asn)	ZNF530 (H336N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519639	NM_001321981.2(ZNF530):c.1037A>T (p.Tyr346Phe)	ZNF530 (Y378F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196504	NM_001321981.2(ZNF530):c.1085T>C (p.Ile362Thr)	ZNF530 (I394T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234562	NM_001321981.2(ZNF530):c.1342C>T (p.His448Tyr)	ZNF530 (H448Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196506	NM_001321981.2(ZNF530):c.1406G>A (p.Arg469Gln)	ZNF530 (R501Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3196507	NM_001321981.2(ZNF530):c.1453C>A (p.Pro485Thr)	ZNF530 (P485T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196508	NM_001321981.2(ZNF530):c.1649C>A (p.Ser550Tyr)	ZNF530 (S550Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 21