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

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2468980	NM_005357.4(LIPE):c.3218G>A (p.Gly1073Glu)	LIPE, LIPE-AS1 +1 more (G544E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258362	NM_005357.4(LIPE):c.3212G>A (p.Gly1071Asp)	LIPE, LIPE-AS1 +1 more (G705D +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119054	NM_005357.4(LIPE):c.3203T>G (p.Val1068Gly)	LIPE, LIPE-AS1 +1 more (V521G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3290812	NM_005357.4(LIPE):c.3191G>A (p.Gly1064Glu)	LIPE, LIPE-AS1 +1 more (G517E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399286	NM_005357.4(LIPE):c.3191G>C (p.Gly1064Ala)	LIPE, LIPE-AS1 +1 more (G517A +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548347	NM_005357.4(LIPE):c.3188C>G (p.Thr1063Arg)	LIPE, LIPE-AS1 +1 more (T534R +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303037	NM_005357.4(LIPE):c.3049C>G (p.Arg1017Gly)	LIPE, LIPE-AS1 +1 more (R686G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479164	NM_005357.4(LIPE):c.3028C>G (p.Leu1010Val)	LIPE, LIPE-AS1 +1 more (L709V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119053	NM_005357.4(LIPE):c.2984C>T (p.Pro995Leu)	LIPE, LIPE-AS1 +1 more (P705L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290814	NM_005357.4(LIPE):c.2975C>T (p.Ala992Val)	LIPE, LIPE-AS1 +1 more (A626V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325215	NM_005357.4(LIPE):c.2954C>T (p.Pro985Leu)	LIPE, LIPE-AS1 +1 more (P438L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538111	NM_005357.4(LIPE):c.2953C>T (p.Pro985Ser)	LIPE, LIPE-AS1 +1 more (P438S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409496	NM_005357.4(LIPE):c.2933G>A (p.Ser978Asn)	LIPE, LIPE-AS1 +1 more (S647N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119052	NM_005357.4(LIPE):c.2926C>T (p.Pro976Ser)	LIPE, LIPE-AS1 +1 more (P429S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380637	NM_005357.4(LIPE):c.2900A>G (p.Asn967Ser)	LIPE, LIPE-AS1 +1 more (N601S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290809	NM_005357.4(LIPE):c.2845C>T (p.Arg949Cys)	LIPE, LIPE-AS1 +1 more (R659C +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290816	NM_005357.4(LIPE):c.2793G>A (p.Met931Ile)	LIPE, LIPE-AS1 +1 more (M384I +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273446	NM_005357.4(LIPE):c.2789C>G (p.Pro930Arg)	LIPE, LIPE-AS1 +1 more (P401R +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119051	NM_005357.4(LIPE):c.2707C>T (p.Pro903Ser)	LIPE, LIPE-AS1 +1 more (P653S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596640	NM_005357.4(LIPE):c.2696A>G (p.Glu899Gly)	LIPE, LIPE-AS1 +1 more (E352G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508250	NM_005357.4(LIPE):c.2680A>G (p.Met894Val)	LIPE, LIPE-AS1 +1 more (M528V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483349	NM_005357.4(LIPE):c.2677G>A (p.Glu893Lys)	LIPE, LIPE-AS1 +1 more (E562K +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406707	NM_005357.4(LIPE):c.2666C>T (p.Ser889Leu)	LIPE, LIPE-AS1 +1 more (S588L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119049	NM_005357.4(LIPE):c.2552G>A (p.Arg851His)	LIPE, LIPE-AS1 +1 more (R485H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290810	NM_005357.4(LIPE):c.2528C>T (p.Ser843Leu)	LIPE, LIPE-AS1 +1 more (S843L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381897	NM_005357.4(LIPE):c.2453G>A (p.Arg818Gln)	LIPE, LIPE-AS1 +1 more (R517Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119048	NM_005357.4(LIPE):c.2428C>T (p.Arg810Trp)	LIPE, LIPE-AS1 +1 more (R520W +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400966	NM_005357.4(LIPE):c.2425G>C (p.Val809Leu)	LIPE, LIPE-AS1 +1 more (V508L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119047	NM_005357.4(LIPE):c.2395G>C (p.Asp799His)	LIPE, LIPE-AS1 +1 more (D270H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304550	NM_005357.4(LIPE):c.2248A>C (p.Met750Leu)	LIPE, LIPE-AS1 +1 more (M203L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299495	NM_005357.4(LIPE):c.2219C>G (p.Ala740Gly)	LIPE, LIPE-AS1 +1 more (A490G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331992	NM_005357.4(LIPE):c.2182G>A (p.Gly728Arg)	LIPE, LIPE-AS1 +1 more (G438R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606872	NM_005357.4(LIPE):c.2165C>T (p.Ala722Val)	LIPE, LIPE-AS1 +1 more (A472V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119045	NM_005357.4(LIPE):c.2123A>G (p.His708Arg)	LIPE, LIPE-AS1 +1 more (H255R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119044	NM_005357.4(LIPE):c.2109C>G (p.Cys703Trp)	LIPE, LIPE-AS1 +1 more (C703W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119043	NM_005357.4(LIPE):c.2084T>C (p.Leu695Pro)	LIPE, LIPE-AS1 +1 more (L148P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119042	NM_005357.4(LIPE):c.2053C>A (p.Leu685Met)	LIPE, LIPE-AS1 +1 more (L232M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460536	NM_005357.4(LIPE):c.2027C>T (p.Ala676Val)	LIPE, LIPE-AS1 +1 more (A375V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2387657	NM_005357.4(LIPE):c.1957G>A (p.Gly653Ser)	LIPE, LIPE-AS1 +1 more (G352S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119041	NM_005357.4(LIPE):c.1951C>T (p.His651Tyr)	LIPE, LIPE-AS1 +1 more (H361Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315307	NM_005357.4(LIPE):c.1904C>T (p.Pro635Leu)	LIPE, LIPE-AS1 +1 more (P345L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368625	NM_005357.4(LIPE):c.1846A>G (p.Ser616Gly)	LIPE, LIPE-AS1 +1 more (S361G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369743	NM_005357.4(LIPE):c.1807G>A (p.Val603Ile)	LIPE, LIPE-AS1 +1 more (V302I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323621	NM_005357.4(LIPE):c.1801G>A (p.Val601Ile)	LIPE, LIPE-AS1 +1 more (V300I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509241	NM_005357.4(LIPE):c.1697G>A (p.Arg566His)	LIPE, LIPE-AS1 +1 more (R276H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560213	NM_005357.4(LIPE):c.1694G>A (p.Ser565Asn)	LIPE, LIPE-AS1 +1 more (S18N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530131	NM_005357.4(LIPE):c.1684G>A (p.Val562Met)	LIPE, LIPE-AS1 +1 more (V15M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519262	NM_005357.4(LIPE):c.1664C>T (p.Ala555Val)	LIPE, LIPE-AS1 +1 more (A102V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266522	NM_005357.4(LIPE):c.1567C>T (p.Arg523Cys)	LIPE, LIPE-AS1 +1 more (R222C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534064	NM_005357.4(LIPE):c.1505G>A (p.Gly502Asp)	LIPE, LIPE-AS1 +1 more (G201D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119039	NM_005357.4(LIPE):c.1477G>A (p.Gly493Arg)	LIPE, LIPE-AS1 +1 more (G203R +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595583	NM_005357.4(LIPE):c.1468G>C (p.Val490Leu)	LIPE, LIPE-AS1 +1 more (V200L +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210539	NM_005357.4(LIPE):c.1424C>T (p.Thr475Met)	LIPE, LIPE-AS1 +1 more (T22M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119038	NM_005357.4(LIPE):c.1402C>T (p.Arg468Cys)	LIPE, LIPE-AS1 (R167C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119037	NM_005357.4(LIPE):c.1310G>A (p.Arg437Gln)	LIPE, LIPE-AS1 (R182Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2328321	NM_005357.4(LIPE):c.1307A>C (p.Asn436Thr)	LIPE, LIPE-AS1 (N146T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516111	NM_005357.4(LIPE):c.1196G>A (p.Arg399His)	LIPE, LIPE-AS1 (R144H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119036	NM_005357.4(LIPE):c.1193G>A (p.Arg398His)	LIPE, LIPE-AS1 (R108H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119035	NM_005357.4(LIPE):c.1190A>G (p.Asn397Ser)	LIPE, LIPE-AS1 (N397S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2548441	NM_005357.4(LIPE):c.1180G>A (p.Val394Met)	LIPE, LIPE-AS1 (V93M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346645	NM_005357.4(LIPE):c.1142G>A (p.Arg381His)	LIPE, LIPE-AS1 (R381H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119034	NM_005357.4(LIPE):c.1121G>A (p.Arg374His)	LIPE, LIPE-AS1 (R374H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2540754	NM_005357.4(LIPE):c.1091T>C (p.Leu364Pro)	LIPE, LIPE-AS1 (L109P +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119033	NM_005357.4(LIPE):c.1052C>T (p.Ala351Val)	LIPE, LIPE-AS1 (A351V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2353491	NM_005357.4(LIPE):c.1049C>T (p.Pro350Leu)	LIPE, LIPE-AS1 (P350L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119032	NM_005357.4(LIPE):c.1025G>A (p.Arg342Gln)	LIPE, LIPE-AS1 (R342Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119031	NM_005357.4(LIPE):c.1024C>T (p.Arg342Trp)	LIPE, LIPE-AS1 (R41W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2391434	NM_005357.4(LIPE):c.1018G>A (p.Gly340Ser)	LIPE, LIPE-AS1 (G39S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119060	NM_005357.4(LIPE):c.977G>T (p.Gly326Val)	LIPE, LIPE-AS1 (G71V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2239006	NM_005357.4(LIPE):c.975G>C (p.Gln325His)	LIPE, LIPE-AS1 (Q70H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374485	NM_005357.4(LIPE):c.934G>A (p.Val312Met)	LIPE, LIPE-AS1 (V11M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251837	NM_005357.4(LIPE):c.920T>C (p.Met307Thr)	LIPE-AS1, LIPE (M52T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489814	NM_005357.4(LIPE):c.839A>T (p.His280Leu)	LIPE, LIPE-AS1 (H280L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119058	NM_005357.4(LIPE):c.830C>T (p.Thr277Met)	LIPE, LIPE-AS1 (T277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369378	NM_005357.4(LIPE):c.700T>C (p.Ser234Pro)	LIPE, LIPE-AS1 (S234P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374718	NM_005357.4(LIPE):c.674T>C (p.Leu225Pro)	LIPE, LIPE-AS1 (L225P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119055	NM_005357.4(LIPE):c.527C>T (p.Thr176Met)	LIPE, LIPE-AS1 (T176M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290815	NM_005357.4(LIPE):c.448C>G (p.Gln150Glu)	LIPE, LIPE-AS1 (Q150E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462582	NM_005357.4(LIPE):c.415C>G (p.Pro139Ala)	LIPE, LIPE-AS1 (P139A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229798	NM_005357.4(LIPE):c.397C>G (p.Gln133Glu)	LIPE, LIPE-AS1 (Q133E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3290813	NM_005357.4(LIPE):c.370A>G (p.Ile124Val)	LIPE, LIPE-AS1 (I124V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119050	NM_005357.4(LIPE):c.262C>A (p.Leu88Ile)	LIPE, LIPE-AS1 (L88I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353883	NM_005357.4(LIPE):c.251A>T (p.Gln84Leu)	LIPE, LIPE-AS1 (Q84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119046	NM_005357.4(LIPE):c.227G>C (p.Arg76Thr)	LIPE, LIPE-AS1 (R76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119040	NM_005357.4(LIPE):c.172C>T (p.Leu58Phe)	LIPE, LIPE-AS1 (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534374	NM_005357.4(LIPE):c.170C>A (p.Pro57His)	LIPE, LIPE-AS1 (P57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119059	NM_005357.4(LIPE):c.86C>G (p.Pro29Arg)	LIPE, LIPE-AS1 (P29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603752	NM_005357.4(LIPE):c.76G>C (p.Glu26Gln)	LIPE, LIPE-AS1 (E26Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304916	NM_005357.4(LIPE):c.70C>T (p.Pro24Ser)	LIPE, LIPE-AS1 (P24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336678	NM_005357.4(LIPE):c.53A>G (p.His18Arg)	LIPE, LIPE-AS1 (H18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 90