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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2369036	NM_031279.4(ETNPPL):c.1495A>C (p.Thr499Pro)	ETNPPL (T441P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387229	NM_031279.4(ETNPPL):c.1485G>C (p.Lys495Asn)	ETNPPL (K489N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345874	NM_031279.4(ETNPPL):c.1402A>G (p.Arg468Gly)	ETNPPL (R428G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357471	NM_031279.4(ETNPPL):c.1382A>C (p.Glu461Ala)	ETNPPL (E403A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312037	NM_031279.4(ETNPPL):c.1154C>T (p.Ala385Val)	ETNPPL (A312V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308641	NM_031279.4(ETNPPL):c.1099A>G (p.Ile367Val)	ETNPPL (I327V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233581	NM_031279.4(ETNPPL):c.1076A>G (p.Asp359Gly)	ETNPPL (D301G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545744	NM_031279.4(ETNPPL):c.1067T>C (p.Leu356Ser)	ETNPPL (L283S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400080	NM_031279.4(ETNPPL):c.904T>C (p.Ser302Pro)	ETNPPL (S262P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379001	NM_031279.4(ETNPPL):c.901A>T (p.Ser301Cys)	ETNPPL (S243C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289054	NM_031279.4(ETNPPL):c.826A>G (p.Met276Val)	ETNPPL (M236V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468505	NM_031279.4(ETNPPL):c.605A>G (p.Asn202Ser)	ETNPPL (N162S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609488	NM_031279.4(ETNPPL):c.526G>A (p.Gly176Arg)	ETNPPL (G103R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537958	NM_031279.4(ETNPPL):c.299C>G (p.Pro100Arg)	ETNPPL (P27R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307630	NM_031279.4(ETNPPL):c.299C>T (p.Pro100Leu)	ETNPPL (P42L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614424	NM_031279.4(ETNPPL):c.218A>G (p.Gln73Arg)	ETNPPL (Q15R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526535	NM_031279.4(ETNPPL):c.34G>A (p.Gly12Arg)	ETNPPL (G12R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance