C0023817[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572510	NM_000237.3(LPL):c.88+3A>C	LPL	Single nucleotide variant (intron variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 2444152	NM_000237.3(LPL):c.550C>T (p.Pro184Ser)	LPL (P184S)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 2136643	NM_000237.3(LPL):c.818A>G (p.His273Arg)	LPL (H273R)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +1 more	GLikely pathogenic
Select item 855588	NM_000237.3(LPL):c.835C>G (p.Leu279Val)	LPL (L279V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 851236	NM_000237.3(LPL):c.836T>G (p.Leu279Arg)	LPL (L279R)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GPathogenic

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