"GeneDx"[submitter] AND "LIPC"[gene] - ClinVar

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

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 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 14454	NC_000015.10:g.58431740G>A	LIPC	Single nucleotide variant	not provided	GBenign
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 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 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)	not provided +1 more	GBenign/Likely benign
Select item 316655	NM_000236.3(LIPC):c.264C>T (p.His88=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
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 316656	NM_000236.3(LIPC):c.283G>A (p.Val95Met)	LIPC (V95M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 316660	NM_000236.3(LIPC):c.465G>T (p.Val155=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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
Select item 1277931	NM_000236.3(LIPC):c.575-177A>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301037	NM_000236.3(LIPC):c.575-91C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301257	NM_000236.3(LIPC):c.575-89G>A	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236280	NM_000236.3(LIPC):c.575-31T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 885098	NM_000236.3(LIPC):c.575-15C>T	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 316661	NM_000236.3(LIPC):c.575-8C>A	LIPC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 316664	NM_000236.3(LIPC):c.591A>G (p.Gly197=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316665	NM_000236.3(LIPC):c.644A>G (p.Asn215Ser)	LIPC (N215S)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316666	NM_000236.3(LIPC):c.672C>G (p.Thr224=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 1308507	NM_000236.3(LIPC):c.731A>G (p.Tyr244Cys)	LIPC (Y244C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452677	NM_000236.3(LIPC):c.759dup (p.Cys254fs)	LIPC (C254fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1219457	NM_000236.3(LIPC):c.808+26G>A	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198315	NM_000236.3(LIPC):c.808+73C>G	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274731	NM_000236.3(LIPC):c.808+254T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296647	NM_000236.3(LIPC):c.808+266T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342780	NM_000236.3(LIPC):c.809-232C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226821	NM_000236.3(LIPC):c.809-79A>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342781	NM_000236.3(LIPC):c.809-47T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307083	NM_000236.3(LIPC):c.815C>T (p.Thr272Ile)	LIPC (T272I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 886008	NM_000236.3(LIPC):c.837C>T (p.His279=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 1290519	NM_000236.3(LIPC):c.1051+111G>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238717	NM_000236.3(LIPC):c.1051+151A>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267634	NM_000236.3(LIPC):c.1051+159T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215539	NM_000236.3(LIPC):c.1051+201T>G	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242421	NM_000236.3(LIPC):c.1052-275G>A	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282179	NM_000236.3(LIPC):c.1052-274T>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283227	NM_000236.3(LIPC):c.1052-210_1052-191del	LIPC	Deletion (intron variant)	not provided	GBenign
Select item 1220773	NM_000236.3(LIPC):c.1052-149C>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245595	NM_000236.3(LIPC):c.1052-141A>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201839	NM_000236.3(LIPC):c.1052-97C>G	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215251	NM_000236.3(LIPC):c.1052-31T>A	LIPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 316672	NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg)	LIPC (Q355R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 316673	NM_000236.3(LIPC):c.1068C>A (p.Phe356Leu)	LIPC (F356L)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316674	NM_000236.3(LIPC):c.1098A>G (p.Thr366=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 1242639	NM_000236.3(LIPC):c.1169+31T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183217	NM_000236.3(LIPC):c.1169+33AC[2]	LIPC	Microsatellite (intron variant)	not provided	GBenign
Select item 1290324	NM_000236.3(LIPC):c.1169+38C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251046	NM_000236.3(LIPC):c.1169+127C>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248145	NM_000236.3(LIPC):c.1169+183C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262565	NM_000236.3(LIPC):c.1169+245T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193857	NM_000236.3(LIPC):c.1170-239del	LIPC	Deletion (intron variant)	not provided	GLikely benign
Select item 1248980	NM_000236.3(LIPC):c.1170-224A>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14451	NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	LIPC (T405M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 735412	NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)	LIPC (D409A)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 316678	NM_000236.3(LIPC):c.1233C>T (p.Gly411=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 885173	NM_000236.3(LIPC):c.1314A>G (p.Pro438=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 1706158	NM_000236.3(LIPC):c.1315T>A (p.Trp439Arg)	LIPC (W439R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1264051	NM_000236.3(LIPC):c.1388+111T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233742	NM_000236.3(LIPC):c.1388+164C>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227111	NM_000236.3(LIPC):c.1388+271T>C	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225432	NM_000236.3(LIPC):c.1388+277G>T	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222064	NM_000236.3(LIPC):c.1389-213T>A	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253119	NM_000236.3(LIPC):c.1389-161T>G	LIPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316681	NM_000236.3(LIPC):c.1437C>A (p.Thr479=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76