"Ambry Genetics"[submitter] AND "ZNF514"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2284571	NM_032788.3(ZNF514):c.1145C>T (p.Ala382Val)	ZNF514 (A455V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196328	NM_032788.3(ZNF514):c.1115A>G (p.Tyr372Cys)	ZNF514 (Y372C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258481	NM_032788.3(ZNF514):c.1084C>T (p.His362Tyr)	ZNF514 (H362Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196327	NM_032788.3(ZNF514):c.1054G>A (p.Ala352Thr)	ZNF514 (A352T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258479	NM_032788.3(ZNF514):c.1041T>G (p.Asn347Lys)	ZNF514 (N420K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297782	NM_032788.3(ZNF514):c.1023G>T (p.Glu341Asp)	ZNF514 (E341D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320153	NM_032788.3(ZNF514):c.953G>A (p.Cys318Tyr)	ZNF514 (C391Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596136	NM_032788.3(ZNF514):c.853G>C (p.Glu285Gln)	ZNF514 (E285Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347246	NM_032788.3(ZNF514):c.710G>A (p.Cys237Tyr)	ZNF514 (C237Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341742	NM_032788.3(ZNF514):c.662G>A (p.Arg221His)	ZNF514 (R221H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196337	NM_032788.3(ZNF514):c.645C>G (p.Phe215Leu)	ZNF514 (F288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196336	NM_032788.3(ZNF514):c.572G>T (p.Gly191Val)	ZNF514 (G191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196335	NM_032788.3(ZNF514):c.521T>C (p.Met174Thr)	ZNF514 (M247T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196334	NM_032788.3(ZNF514):c.520A>T (p.Met174Leu)	ZNF514 (M174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274486	NM_032788.3(ZNF514):c.520A>C (p.Met174Leu)	ZNF514 (M247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365670	NM_032788.3(ZNF514):c.497T>C (p.Leu166Pro)	ZNF514 (L166P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258480	NM_032788.3(ZNF514):c.457T>C (p.Trp153Arg)	ZNF514 (W153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316177	NM_032788.3(ZNF514):c.452A>G (p.Tyr151Cys)	ZNF514 (Y151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475743	NM_032788.3(ZNF514):c.448G>A (p.Asp150Asn)	ZNF514 (D223N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196333	NM_032788.3(ZNF514):c.413C>T (p.Ser138Leu)	ZNF514 (S138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322011	NM_032788.3(ZNF514):c.384A>G (p.Ile128Met)	ZNF514 (I201M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371135	NM_032788.3(ZNF514):c.349T>G (p.Cys117Gly)	ZNF514 (C190G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208933	NM_032788.3(ZNF514):c.332C>T (p.Ser111Leu)	ZNF514 (S184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483364	NM_032788.3(ZNF514):c.331T>C (p.Ser111Pro)	ZNF514 (S111P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196331	NM_032788.3(ZNF514):c.265A>C (p.Ile89Leu)	ZNF514 (I162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599458	NM_032788.3(ZNF514):c.199T>C (p.Ser67Pro)	ZNF514 (S140P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196330	NM_032788.3(ZNF514):c.187G>A (p.Glu63Lys)	ZNF514 (E136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196329	NM_032788.3(ZNF514):c.170G>T (p.Gly57Val)	ZNF514 (G130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216678	NM_032788.3(ZNF514):c.150C>G (p.Ile50Met)	ZNF514 (I123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479697	NM_032788.3(ZNF514):c.142T>C (p.Tyr48His)	ZNF514 (Y48H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196338	NM_032788.3(ZNF514):c.90G>A (p.Met30Ile)	ZNF514 (M103I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31