"Ambry Genetics"[submitter] AND "ZNF558"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2217140	NM_144693.3(ZNF558):c.1186A>G (p.Arg396Gly)	ZNF558 (R396G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258665	NM_144693.3(ZNF558):c.1112C>T (p.Thr371Ile)	ZNF558 (T300I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196688	NM_144693.3(ZNF558):c.1030G>A (p.Gly344Arg)	ZNF558 (G273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196692	NM_144693.3(ZNF558):c.761A>T (p.His254Leu)	ZNF558 (H254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466318	NM_144693.3(ZNF558):c.440G>A (p.Arg147His)	ZNF558 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258662	NM_144693.3(ZNF558):c.425C>T (p.Thr142Met)	ZNF558 (T142M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611839	NM_144693.3(ZNF558):c.391G>A (p.Val131Ile)	ZNF558 (V131I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291147	NM_144693.3(ZNF558):c.382A>G (p.Lys128Glu)	ZNF558 (K128E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355868	NM_144693.3(ZNF558):c.339T>G (p.Cys113Trp)	ZNF558 (C113W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216766	NM_144693.3(ZNF558):c.338G>A (p.Cys113Tyr)	ZNF558 (C113Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196690	NM_144693.3(ZNF558):c.320G>A (p.Gly107Glu)	ZNF558 (G107E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514683	NM_144693.3(ZNF558):c.253C>T (p.Arg85Cys)	ZNF558 (R14C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390396	NM_144693.3(ZNF558):c.235C>G (p.Leu79Val)	ZNF558 (L8V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291727	NM_144693.3(ZNF558):c.217C>G (p.Leu73Val)	ZNF558 (L73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258664	NM_144693.3(ZNF558):c.192A>C (p.Gln64His)	ZNF558 (Q64H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3258663	NM_144693.3(ZNF558):c.119G>A (p.Arg40Gln)	ZNF558 (R40Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2523368	NM_144693.3(ZNF558):c.118C>T (p.Arg40Trp)	ZNF558 (R40W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330616	NM_144693.3(ZNF558):c.82G>A (p.Gly28Arg)	ZNF558 (G28R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3196693	NM_144693.3(ZNF558):c.79G>C (p.Gly27Arg)	ZNF558 (G27R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196689	NM_144693.3(ZNF558):c.26C>T (p.Thr9Ile)	ZNF558 (T9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20