"Ambry Genetics"[submitter] AND "ZNF117"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541990	NM_015852.5(ZNF117):c.1376C>T (p.Thr459Ile)	ERV3-1-ZNF117, ZNF117 (T459I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588743	NM_015852.5(ZNF117):c.1198C>G (p.Leu400Val)	ERV3-1-ZNF117, ZNF117 (L400V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257407	NM_015852.5(ZNF117):c.1162C>A (p.Pro388Thr)	ERV3-1-ZNF117, ZNF117 (P388T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538591	NM_015852.5(ZNF117):c.1131T>A (p.Asn377Lys)	ERV3-1-ZNF117, ZNF117 (N377K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411336	NM_015852.5(ZNF117):c.833A>T (p.Lys278Ile)	ERV3-1-ZNF117, ZNF117 (K278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215637	NM_015852.5(ZNF117):c.763G>A (p.Gly255Ser)	ERV3-1-ZNF117, ZNF117 (G255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257128	NM_015852.5(ZNF117):c.575C>T (p.Pro192Leu)	ERV3-1-ZNF117, ZNF117 (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222156	NM_015852.5(ZNF117):c.386G>A (p.Arg129Lys)	ERV3-1-ZNF117, ZNF117 (R129K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563342	NM_015852.5(ZNF117):c.332G>A (p.Cys111Tyr)	ERV3-1-ZNF117, ZNF117 (C111Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514062	NM_015852.5(ZNF117):c.331T>G (p.Cys111Gly)	ERV3-1-ZNF117, ZNF117 (C111G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508333	NM_015852.5(ZNF117):c.311C>T (p.Thr104Ile)	ERV3-1-ZNF117, ZNF117 (T104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234639	NM_015852.5(ZNF117):c.269T>C (p.Phe90Ser)	ERV3-1-ZNF117, ZNF117 (F90S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482244	NM_015852.5(ZNF117):c.262G>A (p.Glu88Lys)	ERV3-1-ZNF117, ZNF117 (E88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464650	NM_015852.5(ZNF117):c.164G>C (p.Ser55Thr)	ERV3-1-ZNF117, ZNF117 (S55T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382269	NM_015852.5(ZNF117):c.131A>G (p.Tyr44Cys)	ERV3-1-ZNF117, ZNF117 (Y44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408660	NM_015852.5(ZNF117):c.93C>A (p.Phe31Leu)	ERV3-1-ZNF117, ZNF117 (F31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance