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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606788	NM_005575.3(LNPEP):c.104G>A (p.Cys35Tyr)	LNPEP (C35Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412015	NM_005575.3(LNPEP):c.189G>A (p.Met63Ile)	LNPEP (M49I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209018	NM_005575.3(LNPEP):c.266G>A (p.Arg89Gln)	LNPEP (R89Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613312	NM_005575.3(LNPEP):c.337G>A (p.Val113Ile)	LNPEP (V99I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229546	NM_005575.3(LNPEP):c.378G>A (p.Met126Ile)	LNPEP (M112I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370142	NM_005575.3(LNPEP):c.419G>T (p.Gly140Val)	LNPEP (G126V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224800	NM_005575.3(LNPEP):c.434A>C (p.Asn145Thr)	LNPEP (N145T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214138	NM_005575.3(LNPEP):c.443T>C (p.Ile148Thr)	LNPEP (I148T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237700	NM_005575.3(LNPEP):c.592G>A (p.Val198Ile)	LNPEP (V184I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276799	NM_005575.3(LNPEP):c.736G>A (p.Val246Ile)	LNPEP (V246I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489992	NM_005575.3(LNPEP):c.799A>G (p.Ile267Val)	LNPEP (I253V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232369	NM_005575.3(LNPEP):c.805A>G (p.Ser269Gly)	LNPEP (S255G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492506	NM_005575.3(LNPEP):c.812A>C (p.Tyr271Ser)	LNPEP (Y257S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388773	NM_005575.3(LNPEP):c.1012G>A (p.Val338Ile)	LNPEP (V324I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295068	NM_005575.3(LNPEP):c.1039G>A (p.Glu347Lys)	LNPEP (E347K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376203	NM_005575.3(LNPEP):c.1099A>G (p.Lys367Glu)	LNPEP (K353E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211855	NM_005575.3(LNPEP):c.1106T>A (p.Leu369Gln)	LNPEP (L369Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317395	NM_005575.3(LNPEP):c.1178C>T (p.Ala393Val)	LNPEP (A393V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276606	NM_005575.3(LNPEP):c.1257G>T (p.Leu419Phe)	LNPEP (L405F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537271	NM_005575.3(LNPEP):c.1316G>A (p.Arg439Gln)	LNPEP (R425Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590448	NM_005575.3(LNPEP):c.1547T>G (p.Phe516Cys)	LNPEP (F502C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615879	NM_005575.3(LNPEP):c.1639C>T (p.Leu547Phe)	LNPEP (L547F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484965	NM_005575.3(LNPEP):c.1835T>G (p.Leu612Arg)	LNPEP (L598R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472850	NM_005575.3(LNPEP):c.1902A>T (p.Arg634Ser)	LNPEP (R620S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261769	NM_005575.3(LNPEP):c.1988G>A (p.Arg663Lys)	LNPEP (R663K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250815	NM_005575.3(LNPEP):c.2101A>G (p.Ile701Val)	LNPEP (I701V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383684	NM_005575.3(LNPEP):c.2230G>T (p.Val744Leu)	LNPEP (V730L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328509	NM_005575.3(LNPEP):c.2273A>C (p.Asn758Thr)	LNPEP (N758T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319928	NM_005575.3(LNPEP):c.2374G>T (p.Val792Leu)	LNPEP (V792L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243569	NM_005575.3(LNPEP):c.2564T>C (p.Leu855Pro)	LNPEP (L855P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221911	NM_005575.3(LNPEP):c.2650A>G (p.Ile884Val)	LNPEP (I870V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411443	NM_005575.3(LNPEP):c.2679A>G (p.Ile893Met)	LNPEP (I893M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470493	NM_005575.3(LNPEP):c.2757C>G (p.Phe919Leu)	LNPEP (F919L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396745	NM_005575.3(LNPEP):c.2759G>A (p.Arg920Gln)	LNPEP (R906Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322473	NM_005575.3(LNPEP):c.2782A>G (p.Ile928Val)	LNPEP (I928V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276511	NM_005575.3(LNPEP):c.2804T>C (p.Phe935Ser)	LNPEP (F921S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235690	NM_005575.3(LNPEP):c.2911A>G (p.Thr971Ala)	LNPEP (T957A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245073	NM_005575.3(LNPEP):c.2997T>G (p.Cys999Trp)	LNPEP (C985W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347974	NM_005575.3(LNPEP):c.3056A>G (p.Lys1019Arg)	LNPEP (K1019R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 39