Related gene-specific medical variations for Gene (Select 3991) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055360	NM_005357.4(LIPE):c.1497C>T (p.Asn499=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant +1 more)	LIPE-related condition	GLikely benign
Select item 3044374	NM_005357.4(LIPE):c.2137+3G>A	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	LIPE-related condition	GLikely benign
Select item 3036490	NM_005357.4(LIPE):c.3090G>C (p.Ala1030=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	LIPE-related condition	GLikely benign
Select item 3032492	NM_005357.4(LIPE):c.2968-9G>C	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	LIPE-related condition	GLikely benign
Select item 3025791	NM_005357.4(LIPE):c.3195T>G (p.Ala1065=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650044	NM_005357.4(LIPE):c.446C>T (p.Ala149Val)	LIPE, LIPE-AS1 (A149V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650043	NM_005357.4(LIPE):c.1252G>A (p.Ala418Thr)	LIPE, LIPE-AS1 (A117T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2650042	NM_005357.4(LIPE):c.3221G>C (p.Gly1074Ala)	LIPE, LIPE-AS1 +1 more (G1074A +8 more)	Single nucleotide variant (missense variant)	LIPE-related condition +1 more	GLikely benign
Select item 2634521	NM_005357.4(LIPE):c.2329C>T (p.Leu777Phe)	LIPE, LIPE-AS1 +1 more (L230F +5 more)	Single nucleotide variant (missense variant +1 more)	LIPE-related condition	GUncertain significance
Select item 2606872	NM_005357.4(LIPE):c.2165C>T (p.Ala722Val)	LOC101930071, LIPE +1 more (A472V +5 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 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 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 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 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 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 2508250	NM_005357.4(LIPE):c.2680A>G (p.Met894Val)	LOC101930071, LIPE +1 more (M528V +8 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 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 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 2468980	NM_005357.4(LIPE):c.3218G>A (p.Gly1073Glu)	LOC101930071, LIPE +1 more (G544E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462582	NM_005357.4(LIPE):c.415C>G (p.Pro139Ala)	LIPE-AS1, LIPE (P139A)	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 2433462	NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)	LIPE, LIPE-AS1 +1 more (R274C +8 more)	Single nucleotide variant (missense variant)	LIPE-related familial partial lipodystrophy +1 more	GUncertain significance
Select item 2430297	NM_005357.4(LIPE):c.1831C>T (p.Arg611Cys)	LIPE, LIPE-AS1 +1 more (R158C +6 more)	Single nucleotide variant (missense variant)	LIPE-related condition +1 more	GBenign
Select item 2409496	NM_005357.4(LIPE):c.2933G>A (p.Ser978Asn)	LIPE, LOC101930071 +1 more (S647N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406707	NM_005357.4(LIPE):c.2666C>T (p.Ser889Leu)	LOC101930071, LIPE +1 more (S588L +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 2399286	NM_005357.4(LIPE):c.3191G>C (p.Gly1064Ala)	LOC101930071, LIPE +1 more (G517A +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391434	NM_005357.4(LIPE):c.1018G>A (p.Gly340Ser)	LIPE-AS1, LIPE (G39S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387657	NM_005357.4(LIPE):c.1957G>A (p.Gly653Ser)	LOC101930071, LIPE +1 more (G352S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381897	NM_005357.4(LIPE):c.2453G>A (p.Arg818Gln)	LOC101930071, LIPE-AS1 +1 more (R517Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380637	NM_005357.4(LIPE):c.2900A>G (p.Asn967Ser)	LOC101930071, LIPE +1 more (N601S +8 more)	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 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 2369743	NM_005357.4(LIPE):c.1807G>A (p.Val603Ile)	LOC101930071, LIPE +1 more (V302I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369378	NM_005357.4(LIPE):c.700T>C (p.Ser234Pro)	LIPE-AS1, LIPE (S234P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368625	NM_005357.4(LIPE):c.1846A>G (p.Ser616Gly)	LIPE-AS1, LOC101930071 +1 more (S361G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353883	NM_005357.4(LIPE):c.251A>T (p.Gln84Leu)	LIPE-AS1, LIPE (Q84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353491	NM_005357.4(LIPE):c.1049C>T (p.Pro350Leu)	LIPE-AS1, LIPE (P350L +3 more)	Single nucleotide variant (missense variant)	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 2336678	NM_005357.4(LIPE):c.53A>G (p.His18Arg)	LIPE-AS1, LIPE (H18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331992	NM_005357.4(LIPE):c.2182G>A (p.Gly728Arg)	LIPE, LOC101930071 +1 more (G438R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2325215	NM_005357.4(LIPE):c.2954C>T (p.Pro985Leu)	LIPE-AS1, LIPE +1 more (P438L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323621	NM_005357.4(LIPE):c.1801G>A (p.Val601Ile)	LOC101930071, LIPE +1 more (V300I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315307	NM_005357.4(LIPE):c.1904C>T (p.Pro635Leu)	LOC101930071, LIPE-AS1 +1 more (P345L +6 more)	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 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 2303037	NM_005357.4(LIPE):c.3049C>G (p.Arg1017Gly)	LOC101930071, LIPE-AS1 +1 more (R686G +8 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 2273446	NM_005357.4(LIPE):c.2789C>G (p.Pro930Arg)	LOC101930071, LIPE +1 more (P401R +8 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 2258362	NM_005357.4(LIPE):c.3212G>A (p.Gly1071Asp)	LIPE-AS1, LOC101930071 +1 more (G705D +8 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 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 2229798	NM_005357.4(LIPE):c.397C>G (p.Gln133Glu)	LIPE-AS1, LIPE (Q133E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2210539	NM_005357.4(LIPE):c.1424C>T (p.Thr475Met)	LOC101930071, LIPE +1 more (T22M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1338694	NM_005357.4(LIPE):c.2166G>A (p.Ala722=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336508	NM_005357.4(LIPE):c.581C>G (p.Ala194Gly)	LIPE, LIPE-AS1 (A194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336405	NM_005357.4(LIPE):c.818G>A (p.Gly273Glu)	LIPE, LIPE-AS1 (G273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336138	NM_005357.4(LIPE):c.2181C>T (p.Gly727=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1300414	NM_005357.4(LIPE):c.1559C>T (p.Pro520Leu)	LIPE, LIPE-AS1 +1 more (P520L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298771	NM_005357.4(LIPE):c.171C>T (p.Pro57=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1295104	NM_005357.4(LIPE):c.1269C>T (p.Arg423=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1295102	NM_005357.4(LIPE):c.650G>A (p.Arg217Gln)	LIPE, LIPE-AS1 (R217Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1289169	NM_005357.4(LIPE):c.2543-262CA[23]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1279720	NM_005357.4(LIPE):c.2543-262CA[22]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1278908	NM_005357.4(LIPE):c.2365+181T>A	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274732	NM_005357.4(LIPE):c.2365+143TG[16]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1272606	NM_005357.4(LIPE):c.2365+143TG[22]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1270323	NM_005357.4(LIPE):c.883+131T>A	LIPE, LIPE-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264420	NM_005357.4(LIPE):c.2365+143TG[19]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1257604	NM_005357.4(LIPE):c.2365+143TG[18]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1252413	NM_005357.4(LIPE):c.2137+238C>T	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251893	NM_005357.4(LIPE):c.1420-254dup	LIPE, LIPE-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1250605	NM_005357.4(LIPE):c.2543-263_2543-262dup	LIPE, LIPE-AS1 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1247561	NM_005357.4(LIPE):c.2543-262CA[25]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1243242	NM_005357.4(LIPE):c.2543-262CA[21]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1243216	NM_005357.4(LIPE):c.298T>C (p.Tyr100His)	LIPE, LIPE-AS1 (Y100H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1239355	NM_005357.4(LIPE):c.529T>A (p.Ser177Thr)	LIPE, LIPE-AS1 (S177T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1237733	NM_005357.4(LIPE):c.883+142_883+144dup	LIPE, LIPE-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1236252	NM_005357.4(LIPE):c.2365+143TG[20]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1234041	NM_005357.4(LIPE):c.2968-46G>C	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231621	NM_005357.4(LIPE):c.2543-262CA[24]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1226937	NM_005357.4(LIPE):c.2543-261A>T	LOC101930071, LIPE +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224184	NM_005357.4(LIPE):c.2968-44C>G	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1049872	NM_005357.4(LIPE):c.1291C>T (p.Arg431Cys)	LIPE, LIPE-AS1 (R431C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049870	NM_005357.4(LIPE):c.1051G>A (p.Ala351Thr)	LIPE, LIPE-AS1 (A351T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028370	NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter)	LIPE, LIPE-AS1 +1 more (R718*)	Single nucleotide variant (nonsense)	LIPE-related familial partial lipodystrophy	GLikely pathogenic
Select item 998371	NM_005357.4(LIPE):c.913C>T (p.Arg305Cys)	LIPE, LIPE-AS1 (R305C)	Single nucleotide variant (missense variant)	LIPE-related familial partial lipodystrophy	GUncertain significance
Select item 797360	NM_005357.4(LIPE):c.1510+8C>T	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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