Related gene-specific medical variations for Gene (Select 3990) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2502241	NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)	LIPC (R344Q)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2502235	NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)	LIPC (G118E)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2502224	NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)	LIPC (A126D)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2502204	NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)	LIPC (V342I)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
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 1340210	GRCh37/hg19 15q21.3(chr15:58756554-58863464)x1	LIPC	Copy number loss	not provided	GLikely benign
Select item 980045	GRCh37/hg19 15q21.3(chr15:58759710-58879262)x1	LIPC	Copy number loss	not provided	GLikely benign
Select item 931919	NM_000236.3(LIPC):c.787A>G (p.Ile263Val)	LIPC (I263V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 687729	GRCh37/hg19 15q21.3(chr15:58511251-58797110)x1	LIPC	Copy number loss	not provided	GUncertain significance
Select item 685763	GRCh37/hg19 15q21.3(chr15:58646985-58746830)x1	LIPC	Copy number loss	not provided	GUncertain significance
Select item 564211	GRCh37/hg19 15q21.3(chr15:58800140-58863464)x1	LIPC	Copy number loss	not provided	GUncertain significance
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