LIPC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 57466	GRCh38/hg38 15q21.3(chr15:58227724-58464615)x1	LIPC, LIPC-AS1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 14453	NC_000015.10:g.58431476C>T	LIPC	Single nucleotide variant (genic upstream transcript variant)	High density lipoprotein cholesterol level quantitative trait locus 12	Gassociation
Select item 14454	NM_000236.2(LIPC):c.-293G>A	LIPC	Single nucleotide variant	not provided	GBenign
Select item 2985171	NM_000236.3(LIPC):c.5A>T (p.Asp2Val)	LIPC (D2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849214	NM_000236.3(LIPC):c.12T>G (p.Ser4Arg)	LIPC (S4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119028	NM_000236.3(LIPC):c.34T>G (p.Leu12Val)	LIPC (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 886947	NM_000236.3(LIPC):c.67C>T (p.Leu23Phe)	LIPC (L23F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2959662	NM_000236.3(LIPC):c.78C>G (p.Ser26Arg)	LIPC (S26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886948	NM_000236.3(LIPC):c.88+5G>C	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 2584633	NM_000236.3(LIPC):c.88+8C>A	LIPC	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1244570	NM_000236.3(LIPC):c.88+52C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243737	NM_000236.3(LIPC):c.88+64A>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264908	NM_000236.3(LIPC):c.88+205A>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691082	NM_000236.3(LIPC):c.88+8149G>A	LIPC, LIPC-AS1	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1691081	NM_000236.3(LIPC):c.88+16269C>T	LIPC, LIPC-AS1	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 14455	NM_000236.3(LIPC):c.[88+16269C>T;88+8149G>A]	LIPC, LIPC-AS1	Single nucleotide variant (intron variant)	High density lipoprotein cholesterol level quantitative trait locus 12	Gassociation
Select item 1337611	NM_000236.3(LIPC):c.89-4G>A	LIPC	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2176287	NM_000236.3(LIPC):c.95T>G (p.Phe32Cys)	LIPC (F32C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795977	NM_000236.3(LIPC):c.107C>A (p.Ala36Asp)	LIPC (A36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978885	NM_000236.3(LIPC):c.120A>G (p.Glu40=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 886949	NM_000236.3(LIPC):c.132G>A (p.Thr44=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 3119026	NM_000236.3(LIPC):c.137A>G (p.His46Arg)	LIPC (H46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057604	NM_000236.3(LIPC):c.142A>G (p.Met48Val)	LIPC (M48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416787	NM_000236.3(LIPC):c.143T>G (p.Met48Arg)	LIPC (M48R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2895864	NM_000236.3(LIPC):c.165T>G (p.Phe55Leu)	LIPC (F55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414083	NM_000236.3(LIPC):c.168A>G (p.Gly56=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445278	NM_000236.3(LIPC):c.193C>T (p.Arg65Ter)	LIPC (R65*)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 2697597	NM_000236.3(LIPC):c.196A>G (p.Ile66Val)	LIPC (I66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316654	NM_000236.3(LIPC):c.206C>T (p.Pro69Leu)	LIPC (P69L)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 886950	NM_000236.3(LIPC):c.207G>A (p.Pro69=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2662937	NM_000236.3(LIPC):c.209A>G (p.Asp70Gly)	LIPC (D70G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782593	NM_000236.3(LIPC):c.213G>A (p.Thr71=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GBenign/Likely benign
Select item 1576792	NM_000236.3(LIPC):c.225C>T (p.Cys75=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2379317	NM_000236.3(LIPC):c.226G>T (p.Gly76Cys)	LIPC (G76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2118745	NM_000236.3(LIPC):c.252G>A (p.Val84=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2054533	NM_000236.3(LIPC):c.262C>T (p.His88Tyr)	LIPC (H88Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316655	NM_000236.3(LIPC):c.264C>T (p.His88=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2212005	NM_000236.3(LIPC):c.272C>T (p.Ser91Leu)	LIPC (S91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2899873	NM_000236.3(LIPC):c.273G>A (p.Ser91=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1277894	NM_000236.3(LIPC):c.273+250C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266388	NM_000236.3(LIPC):c.274-279T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174282	NM_000236.3(LIPC):c.274-242T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261952	NM_000236.3(LIPC):c.274-46G>A	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502270	NM_000236.3(LIPC):c.274-5C>T	LIPC	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 1665691	NM_000236.3(LIPC):c.279C>T (p.Asp93=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072120	NM_000236.3(LIPC):c.280G>A (p.Gly94Ser)	LIPC (G94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895095	NM_000236.3(LIPC):c.283G>T (p.Val95Leu)	LIPC (V95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316656	NM_000236.3(LIPC):c.283G>A (p.Val95Met)	LIPC (V95M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2216617	NM_000236.3(LIPC):c.308T>C (p.Met103Thr)	LIPC (M103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 888210	NM_000236.3(LIPC):c.314C>T (p.Ala105Val)	LIPC (A105V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316657	NM_000236.3(LIPC):c.316G>A (p.Ala106Thr)	LIPC (A106T)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316658	NM_000236.3(LIPC):c.317C>T (p.Ala106Val)	LIPC (A106V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 731054	NM_000236.3(LIPC):c.318G>A (p.Ala106=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883975	NM_000236.3(LIPC):c.332C>T (p.Pro111Leu)	LIPC (P111L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735637	NM_000236.3(LIPC):c.333G>A (p.Pro111=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602429	NM_000236.3(LIPC):c.340C>A (p.Pro114Thr)	LIPC (P114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596743	NM_000236.3(LIPC):c.349G>A (p.Val117Met)	LIPC (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502235	NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)	LIPC (G118E)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 1525181	NM_000236.3(LIPC):c.374T>C (p.Leu125Pro)	LIPC (L125P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502224	NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)	LIPC (A126D)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 1605354	NM_000236.3(LIPC):c.381C>T (p.His127=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439966	NM_000236.3(LIPC):c.382G>T (p.Asp128Tyr)	LIPC (D128Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963151	NM_000236.3(LIPC):c.396C>T (p.Ile132=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896615	NM_000236.3(LIPC):c.399C>T (p.Ala133=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818224	NM_000236.3(LIPC):c.399C>A (p.Ala133=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 888211	NM_000236.3(LIPC):c.403C>T (p.Arg135Cys)	LIPC (R135C)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 2060462	NM_000236.3(LIPC):c.404G>A (p.Arg135His)	LIPC (R135H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2721183	NM_000236.3(LIPC):c.410C>A (p.Thr137Asn)	LIPC (T137N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556376	NM_000236.3(LIPC):c.412C>T (p.Arg138Cys)	LIPC (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2152247	NM_000236.3(LIPC):c.433G>A (p.Ala145Thr)	LIPC (A145T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2882870	NM_000236.3(LIPC):c.434C>T (p.Ala145Val)	LIPC (A145V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085301	NM_000236.3(LIPC):c.456+2T>C	LIPC	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 888212	NM_000236.3(LIPC):c.456+5C>T	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 2792823	NM_000236.3(LIPC):c.456+11G>A	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003330	NM_000236.3(LIPC):c.456+12C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225442	NM_000236.3(LIPC):c.456+209T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267834	NM_000236.3(LIPC):c.456+225A>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252893	NM_000236.3(LIPC):c.457-194A>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965712	NM_000236.3(LIPC):c.457-16C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 316659	NM_000236.3(LIPC):c.461C>A (p.Ser154Tyr)	LIPC (S154Y)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316660	NM_000236.3(LIPC):c.465G>T (p.Val155=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1562761	NM_000236.3(LIPC):c.480C>T (p.Ser160=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373000	NM_000236.3(LIPC):c.497G>C (p.Gly166Ala)	LIPC (G166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2975171	NM_000236.3(LIPC):c.498G>C (p.Gly166=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804137	NM_000236.3(LIPC):c.517G>A (p.Val173Met)	LIPC (V173M)	Single nucleotide variant (missense variant)	High density lipoprotein cholesterol level quantitative trait locus 12	GUncertain significance
Select item 2057109	NM_000236.3(LIPC):c.531C>T (p.Ala177=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257690	NM_000236.3(LIPC):c.532G>A (p.Gly178Ser)	LIPC (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119029	NM_000236.3(LIPC):c.536G>A (p.Ser179Asn)	LIPC (S179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2967858	NM_000236.3(LIPC):c.543C>T (p.Ile181=)	LIPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906985	NM_000236.3(LIPC):c.544G>A (p.Gly182Ser)	LIPC (G182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2352211	NM_000236.3(LIPC):c.551C>T (p.Thr184Met)	LIPC (T184M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2405496	NM_000236.3(LIPC):c.554A>G (p.His185Arg)	LIPC (H185R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1963560	NM_000236.3(LIPC):c.559A>T (p.Ile187Phe)	LIPC (I187F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929062	NM_000236.3(LIPC):c.574+18C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281048	NM_000236.3(LIPC):c.574+79C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243307	NM_000236.3(LIPC):c.575-223C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266651	NM_000236.3(LIPC):c.575-219G>A	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign

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