3991[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
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 +1 more	GLikely benign
Select item 155901	NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)	LIPE, LIPE-AS1 +1 more (V1068fs)	Deletion (frameshift variant)	LIPE-related familial partial lipodystrophy	GPathogenic/Likely pathogenic
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 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 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 708992	NM_005357.4(LIPE):c.3172G>C (p.Gly1058Arg)	LIPE, LIPE-AS1 +1 more (G1058R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 795997	NM_005357.4(LIPE):c.3165C>T (p.Ala1055=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522594	NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter)	LIPE, LIPE-AS1 +1 more (E1035*)	Single nucleotide variant (nonsense)	LIPE-related familial partial lipodystrophy	GPathogenic
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 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 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 393280	NM_005357.4(LIPE):c.3040G>A (p.Val1014Met)	LIPE, LIPE-AS1 +1 more (V1014M)	Single nucleotide variant (missense variant)	LIPE-related familial partial lipodystrophy +2 more	GConflicting classifications of pathogenicity
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 435763	NM_005357.4(LIPE):c.2985C>T (p.Pro995=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	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 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 3032492	NM_005357.4(LIPE):c.2968-9G>C	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	LIPE-related disorder	GLikely benign
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 1234041	NM_005357.4(LIPE):c.2968-46G>C	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 719524	NM_005357.4(LIPE):c.2880C>T (p.Tyr960=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 778844	NM_005357.4(LIPE):c.2812C>A (p.Arg938Ser)	LIPE, LIPE-AS1 +1 more (R938S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 708271	NM_005357.4(LIPE):c.2662T>C (p.Ser888Pro)	LIPE-AS1, LOC101930071 +1 more (S888P)	Single nucleotide variant (missense variant)	LIPE-related disorder +1 more	GBenign
Select item 729455	NM_005357.4(LIPE):c.2655C>T (p.Ser885=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1231621	NM_005357.4(LIPE):c.2543-262CA[24]	LIPE, LIPE-AS1 +1 more	Microsatellite (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 1226937	NM_005357.4(LIPE):c.2543-261A>T	LOC101930071, LIPE +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 435764	NM_005357.4(LIPE):c.2429G>A (p.Arg810Gln)	LIPE, LIPE-AS1 +1 more (R810Q)	Single nucleotide variant (missense variant)	not specified	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 1272606	NM_005357.4(LIPE):c.2365+143TG[22]	LIPE, LIPE-AS1 +1 more	Microsatellite (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 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 1236252	NM_005357.4(LIPE):c.2365+143TG[20]	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 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 778845	NM_005357.4(LIPE):c.2262G>A (p.Pro754=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 708902	NM_005357.4(LIPE):c.2224G>A (p.Gly742Arg)	LIPE, LIPE-AS1 +1 more (G742R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 790436	NM_005357.4(LIPE):c.2223C>T (p.Tyr741=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 1338694	NM_005357.4(LIPE):c.2166G>A (p.Ala722=)	LIPE-AS1, LOC101930071 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 1252413	NM_005357.4(LIPE):c.2137+238C>T	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 731850	NM_005357.4(LIPE):c.1989C>T (p.His663=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	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 736654	NM_005357.4(LIPE):c.1929G>A (p.Ser643=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778846	NM_005357.4(LIPE):c.1905G>A (p.Pro635=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 disorder +1 more	GBenign
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 738457	NM_005357.4(LIPE):c.1788A>G (p.Thr596=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 784550	NM_005357.4(LIPE):c.1677G>A (p.Ser559=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 708847	NM_005357.4(LIPE):c.1638C>T (p.Thr546=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	LIPE-related disorder +1 more	GLikely benign

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