"Ambry Genetics"[submitter] AND "ZNF416"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2540330	NM_017879.3(ZNF416):c.1756C>T (p.Pro586Ser)	ZNF416 (P514S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2318504	NM_017879.3(ZNF416):c.1709A>C (p.Lys570Thr)	ZNF416 (K570T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544481	NM_017879.3(ZNF416):c.1648T>C (p.Tyr550His)	ZNF416 (Y478H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457637	NM_017879.3(ZNF416):c.1381A>G (p.Thr461Ala)	ZNF416 (T461A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464629	NM_017879.3(ZNF416):c.1154G>A (p.Gly385Asp)	ZNF416 (G313D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515805	NM_017879.3(ZNF416):c.1085C>G (p.Ala362Gly)	ZNF416 (A362G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538135	NM_017879.3(ZNF416):c.979G>A (p.Glu327Lys)	ZNF416 (E255K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610910	NM_017879.3(ZNF416):c.866G>A (p.Arg289Gln)	ZNF416 (R217Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621839	NM_017879.3(ZNF416):c.733A>T (p.Ser245Cys)	ZNF416 (S173C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400405	NM_017879.3(ZNF416):c.679A>C (p.Lys227Gln)	ZNF416 (K155Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370181	NM_017879.3(ZNF416):c.618G>C (p.Glu206Asp)	ZNF416 (E206D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380771	NM_017879.3(ZNF416):c.517A>C (p.Ser173Arg)	ZNF416 (S101R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614263	NM_017879.3(ZNF416):c.457A>G (p.Met153Val)	ZNF416 (M153V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236091	NM_017879.3(ZNF416):c.443C>G (p.Pro148Arg)	ZNF416 (P76R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404422	NM_017879.3(ZNF416):c.306G>T (p.Lys102Asn)	ZNF416 (K102N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401520	NM_017879.3(ZNF416):c.287C>T (p.Ala96Val)	ZNF416 (A24V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274772	NM_017879.3(ZNF416):c.265C>T (p.Pro89Ser)	ZNF416 (P89S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517677	NM_017879.3(ZNF416):c.226G>A (p.Glu76Lys)	ZNF416 (E4K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355192	NM_017879.3(ZNF416):c.62T>C (p.Met21Thr)	ZNF416 (M21T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2387524	NM_017879.3(ZNF416):c.29C>T (p.Thr10Ile)	LOC130065186, ZNF416 (T10I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 20