Related gene-specific medical variations for Gene (Select 100996307) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 227

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367084	NM_005357.4(LIPE):c.3212G>C (p.Gly1071Ala)	LIPE, LIPE-AS1 +1 more (G1071A +8 more)	Single nucleotide variant (missense variant)	LIPE-related familial partial lipodystrophy	GUncertain significance
Select item 3357216	NM_005357.4(LIPE):c.63T>C (p.Pro21=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	LIPE-related disorder	GLikely benign
Select item 3352407	NM_005357.4(LIPE):c.2366-10T>C	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	LIPE-related disorder	GLikely benign
Select item 3351697	NM_005357.4(LIPE):c.1744G>A (p.Asp582Asn)	LIPE, LIPE-AS1 +1 more (D129N +6 more)	Single nucleotide variant (missense variant)	LIPE-related disorder	GUncertain significance
Select item 3350619	NM_005357.4(LIPE):c.2499G>A (p.Glu833=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	LIPE-related disorder	GLikely benign
Select item 3341750	NM_005357.4(LIPE):c.840T>C (p.His280=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341628	NM_005357.4(LIPE):c.3165C>G (p.Ala1055=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 3265686	NM_001816.4(CEACAM8):c.920G>T (p.Gly307Val)	CEACAM8, LIPE-AS1 (G307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265685	NM_001816.4(CEACAM8):c.431C>G (p.Thr144Ser)	CEACAM8, LIPE-AS1 (T144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265684	NM_001816.4(CEACAM8):c.740C>T (p.Thr247Ile)	CEACAM8, LIPE-AS1 (T247I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265646	NM_001712.5(CEACAM1):c.1400C>G (p.Thr467Arg)	CEACAM1, LIPE-AS1 (T402R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3236616	NM_005357.4(LIPE):c.3079C>A (p.Leu1027Met)	LIPE, LIPE-AS1 +1 more (L1027M +8 more)	Single nucleotide variant (missense variant)	LIPE-related familial partial lipodystrophy	GUncertain significance
Select item 3141856	NM_001816.4(CEACAM8):c.878A>T (p.Asn293Ile)	CEACAM8, LIPE-AS1 (N293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141855	NM_001816.4(CEACAM8):c.743A>G (p.Tyr248Cys)	CEACAM8, LIPE-AS1 (Y248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141854	NM_001816.4(CEACAM8):c.293G>A (p.Arg98Gln)	CEACAM8, LIPE-AS1 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141853	NM_001816.4(CEACAM8):c.1034G>T (p.Arg345Met)	CEACAM8, LIPE-AS1 (R345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141852	NM_001816.4(CEACAM8):c.1034G>A (p.Arg345Lys)	CEACAM8, LIPE-AS1 (R345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141792	NM_001712.5(CEACAM1):c.452G>A (p.Ser151Asn)	CEACAM1, LIPE-AS1 (S151N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141791	NM_001712.5(CEACAM1):c.1446T>C (p.Asn482=)	CEACAM1, LIPE-AS1 (M463T)	Single nucleotide variant (stop lost +2 more)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3079177	NM_198477.3(CXCL17):c.85G>A (p.Ala29Thr)	CXCL17, LIPE-AS1 (A29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079176	NM_198477.3(CXCL17):c.65G>C (p.Ser22Thr)	CXCL17, LIPE-AS1 (S22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 disorder	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 disorder	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 disorder	GLikely benign
Select item 3032492	NM_005357.4(LIPE):c.2968-9G>C	LOC101930071, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	LIPE-related disorder	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)	not provided	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 disorder	GUncertain significance
Select item 2609900	NM_001712.5(CEACAM1):c.1406A>G (p.His469Arg)	CEACAM1, LIPE-AS1 (H373R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2589249	NM_001816.4(CEACAM8):c.233G>A (p.Arg78Gln)	CEACAM8, LIPE-AS1 (R78Q)	Single nucleotide variant (missense variant)	not specified	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 2558740	NM_001816.4(CEACAM8):c.548A>T (p.Gln183Leu)	CEACAM8, LIPE-AS1 (Q183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554943	NM_001816.4(CEACAM8):c.737A>T (p.Asp246Val)	CEACAM8, LIPE-AS1 (D246V)	Single nucleotide variant (missense variant)	not specified	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 2544530	NM_001816.4(CEACAM8):c.508G>C (p.Glu170Gln)	CEACAM8, LIPE-AS1 (E170Q)	Single nucleotide variant (missense variant)	not specified	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 2528566	NM_001816.4(CEACAM8):c.640G>A (p.Glu214Lys)	CEACAM8, LIPE-AS1 (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526807	NM_001712.5(CEACAM1):c.1092G>T (p.Gln364His)	CEACAM1, LIPE-AS1 (Q364H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523612	NM_001816.4(CEACAM8):c.945G>A (p.Met315Ile)	CEACAM8, LIPE-AS1 (M315I)	Single nucleotide variant (missense variant)	not specified	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)	LIPE, LIPE-AS1 +1 more (M528V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493901	NM_001816.4(CEACAM8):c.742T>G (p.Tyr248Asp)	CEACAM8, LIPE-AS1 (Y248D)	Single nucleotide variant (missense variant)	not specified	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)	LIPE, LIPE-AS1 +1 more (G544E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467161	NM_001816.4(CEACAM8):c.141G>C (p.Glu47Asp)	CEACAM8, LIPE-AS1 (E47D)	Single nucleotide variant (missense variant)	not specified	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 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 2457488	NM_001816.4(CEACAM8):c.226A>C (p.Asn76His)	CEACAM8, LIPE-AS1 (N76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder +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)	See cases	GBenign

<< First< Prev

Page of 3