"Ambry Genetics"[submitter] AND "ZNF333"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2411043	NM_032433.4(ZNF333):c.4G>A (p.Glu2Lys)	ZNF333 (E2K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351009	NM_032433.4(ZNF333):c.31G>A (p.Val11Met)	ZNF333 (V11M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313625	NM_032433.4(ZNF333):c.67G>A (p.Ala23Thr)	ZNF333 (A23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206531	NM_032433.4(ZNF333):c.197G>C (p.Arg66Pro)	ZNF333 (R66P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477563	NM_032433.4(ZNF333):c.307G>C (p.Gly103Arg)	ZNF333 (G103R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272454	NM_032433.4(ZNF333):c.340C>T (p.Pro114Ser)	ZNF333 (P5S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357297	NM_032433.4(ZNF333):c.382C>T (p.Arg128Trp)	ZNF333 (R128W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2241361	NM_032433.4(ZNF333):c.383G>A (p.Arg128Gln)	ZNF333 (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569104	NM_032433.4(ZNF333):c.401C>T (p.Pro134Leu)	ZNF333 (P134L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328234	NM_032433.4(ZNF333):c.403C>A (p.Pro135Thr)	ZNF333 (P135T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404252	NM_032433.4(ZNF333):c.422C>T (p.Thr141Met)	ZNF333 (T141M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2286619	NM_032433.4(ZNF333):c.506A>G (p.Asp169Gly)	ZNF333 (D169G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2455444	NM_032433.4(ZNF333):c.589G>A (p.Ala197Thr)	ZNF333 (A51T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2568508	NM_032433.4(ZNF333):c.640C>T (p.Pro214Ser)	ZNF333 (P214S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281437	NM_032433.4(ZNF333):c.648A>T (p.Glu216Asp)	ZNF333 (E70D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550155	NM_032433.4(ZNF333):c.688G>C (p.Asp230His)	ZNF333 (D230H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493120	NM_032433.4(ZNF333):c.707A>G (p.Tyr236Cys)	ZNF333 (Y127C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456816	NM_032433.4(ZNF333):c.929A>G (p.Tyr310Cys)	ZNF333 (Y164C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205921	NM_032433.4(ZNF333):c.935A>G (p.Tyr312Cys)	ZNF333 (Y81C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294298	NM_032433.4(ZNF333):c.964A>T (p.Ile322Phe)	ZNF333 (I213F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2322883	NM_032433.4(ZNF333):c.1078C>T (p.Arg360Cys)	ZNF333 (R129C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2530879	NM_032433.4(ZNF333):c.1275T>A (p.Ser425Arg)	ZNF333 (S194R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547908	NM_032433.4(ZNF333):c.1280G>A (p.Cys427Tyr)	ZNF333 (C318Y +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2206995	NM_032433.4(ZNF333):c.1325G>T (p.Arg442Ile)	ZNF333 (R211I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280415	NM_032433.4(ZNF333):c.1363T>G (p.Cys455Gly)	ZNF333 (C309G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211485	NM_032433.4(ZNF333):c.1393C>T (p.Leu465Phe)	ZNF333 (L319F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284361	NM_032433.4(ZNF333):c.1501A>G (p.Thr501Ala)	ZNF333 (T392A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595350	NM_032433.4(ZNF333):c.1618G>A (p.Gly540Ser)	ZNF333 (G309S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2561221	NM_032433.4(ZNF333):c.1745G>A (p.Arg582Lys)	ZNF333 (R473K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2615582	NM_032433.4(ZNF333):c.1982G>A (p.Gly661Glu)	ZNF333 (G661E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 30