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

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Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2596148	NM_001378477.3(NYX):c.38T>G (p.Leu13Arg)	NYX (L13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025763	NM_001378477.3(NYX):c.58G>A (p.Gly20Arg)	NYX (G20R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1370822	NM_001378477.3(NYX):c.112G>C (p.Gly38Arg)	NYX (G38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267422	NM_001378477.3(NYX):c.145C>G (p.Leu49Val)	NYX (L49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203623	NM_001378477.3(NYX):c.331C>A (p.Arg111Ser)	NYX (R111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914663	NM_001378477.3(NYX):c.368C>T (p.Ala123Val)	NYX (A128V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1062528	NM_001378477.3(NYX):c.390C>A (p.Ser130Arg)	NYX (S130R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1054926	NM_001378477.3(NYX):c.463G>A (p.Ala155Thr)	NYX (A155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3203624	NM_001378477.3(NYX):c.515C>T (p.Ala172Val)	NYX (A172V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396036	NM_001378477.3(NYX):c.584G>A (p.Ser195Asn)	NYX (S195N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2337811	NM_001378477.3(NYX):c.589C>G (p.Leu197Val)	NYX (L197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317913	NM_001378477.3(NYX):c.596G>A (p.Gly199Asp)	NYX (G199D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203625	NM_001378477.3(NYX):c.614C>T (p.Ser205Leu)	NYX (S205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482428	NM_001378477.3(NYX):c.715G>A (p.Glu239Lys)	NYX (E239K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914665	NM_001378477.3(NYX):c.722C>T (p.Pro241Leu)	NYX (P246L +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A +2 more	GUncertain significance
Select item 3301784	NM_001378477.3(NYX):c.736C>T (p.Arg246Cys)	NYX (R246C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1092370	NM_001378477.3(NYX):c.745C>T (p.Arg249Trp)	NYX (R249W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 849242	NM_001378477.3(NYX):c.796C>T (p.Arg266Cys)	NYX (R271C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1388492	NM_001378477.3(NYX):c.800C>T (p.Ala267Val)	NYX (A267V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1020364	NM_001378477.3(NYX):c.890C>T (p.Ser297Leu)	NYX (S297L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330968	NM_001378477.3(NYX):c.901G>T (p.Ala301Ser)	NYX (A301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1719489	NM_001378477.3(NYX):c.914A>G (p.Asn305Ser)	NYX (N305S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2115031	NM_001378477.3(NYX):c.942G>C (p.Trp314Cys)	NYX (W314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3301785	NM_001378477.3(NYX):c.958G>T (p.Gly320Cys)	NYX (G320C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615521	NM_001378477.3(NYX):c.1032C>G (p.Asp344Glu)	NYX (D344E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 943788	NM_001378477.3(NYX):c.1051C>T (p.Arg351Cys)	NYX (R356C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1961063	NM_001378477.3(NYX):c.1175C>G (p.Ser392Cys)	NYX (S392C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 756676	NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)	NYX (C465F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2321453	NM_001378477.3(NYX):c.1381C>T (p.Leu461Phe)	NYX (L461F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29