"Ambry Genetics"[submitter] AND "ZNF417"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2350447	NM_152475.3(ZNF417):c.1706C>T (p.Ser569Leu)	ZNF417 (S568L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406898	NM_152475.3(ZNF417):c.1513T>C (p.Ser505Pro)	ZNF417 (S505P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520393	NM_152475.3(ZNF417):c.1504C>A (p.Leu502Ile)	ZNF417 (L502I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226117	NM_152475.3(ZNF417):c.1472C>T (p.Pro491Leu)	ZNF417 (P491L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468420	NM_152475.3(ZNF417):c.1412A>C (p.Lys471Thr)	ZNF417 (K470T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383814	NM_152475.3(ZNF417):c.1394C>T (p.Ala465Val)	ZNF417 (A465V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520848	NM_152475.3(ZNF417):c.1345T>C (p.Tyr449His)	ZNF417 (Y448H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344793	NM_152475.3(ZNF417):c.1292C>T (p.Thr431Ile)	ZNF417 (T430I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477620	NM_152475.3(ZNF417):c.1160A>G (p.Lys387Arg)	ZNF417 (K387R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234399	NM_152475.3(ZNF417):c.1144T>C (p.Cys382Arg)	ZNF417 (C381R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494474	NM_152475.3(ZNF417):c.1114C>T (p.Arg372Cys)	ZNF417 (R371C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401033	NM_152475.3(ZNF417):c.1102A>G (p.Ile368Val)	ZNF417 (I367V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387912	NM_152475.3(ZNF417):c.1012A>G (p.Asn338Asp)	ZNF417 (N337D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480042	NM_152475.3(ZNF417):c.904G>A (p.Gly302Arg)	ZNF417 (G301R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350618	NM_152475.3(ZNF417):c.875G>A (p.Gly292Glu)	ZNF417 (G291E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600655	NM_152475.3(ZNF417):c.803A>G (p.Tyr268Cys)	ZNF417 (Y268C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229587	NM_152475.3(ZNF417):c.793A>G (p.Lys265Glu)	ZNF417 (K264E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274307	NM_152475.3(ZNF417):c.755A>G (p.Tyr252Cys)	ZNF417 (Y251C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261877	NM_152475.3(ZNF417):c.650G>A (p.Arg217His)	ZNF417 (R216H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220197	NM_152475.3(ZNF417):c.464C>T (p.Ala155Val)	ZNF417 (A154V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344516	NM_152475.3(ZNF417):c.439T>G (p.Phe147Val)	ZNF417 (F146V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313954	NM_152475.3(ZNF417):c.145G>A (p.Ala49Thr)	ZNF417 (A48T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229836	NM_152475.3(ZNF417):c.128T>C (p.Val43Ala)	ZNF417 (V42A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522648	NM_152475.3(ZNF417):c.38G>A (p.Gly13Asp)	ZNF417 (G12D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 24