ClinVar for MedGen (Select 382521) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2502241	NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)	LIPC (R344Q)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	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 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 2502204	NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)	LIPC (V342I)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
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 1678437	NM_000236.3(LIPC):c.674G>A (p.Arg225Gln)	LIPC (R225Q)	Single nucleotide variant (missense variant)	High density lipoprotein cholesterol level quantitative trait locus 12 +3 more	GUncertain significance
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 316672	NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg)	LIPC (Q355R)	Single nucleotide variant (missense variant)	High density lipoprotein cholesterol level quantitative trait locus 12 +4 more	GBenign/Likely benign
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 14454	NM_000236.2(LIPC):c.-293G>A	LIPC	Single nucleotide variant	not provided	GBenign
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 14451	NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	LIPC (T405M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity