"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LPL"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1203042	NM_000237.3(LPL):c.292G>A (p.Ala98Thr)	LPL (A98T)	Single nucleotide variant (missense variant)	LPL-related disorder +4 more	GLikely pathogenic
Select item 1684861	NM_000237.3(LPL):c.373G>A (p.Ala125Thr)	LPL (A125T)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +2 more	GUncertain significance
Select item 1522	NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	LPL (G215E)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GPathogenic/Likely pathogenic
Select item 1366216	NM_000237.3(LPL):c.688del (p.Val230fs)	LPL (V230fs)	Deletion (frameshift variant)	Hyperlipidemia, familial combined, LPL related +2 more	GPathogenic/Likely pathogenic
Select item 1539	NM_000237.3(LPL):c.829G>A (p.Asp277Asn)	LPL (D277N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely 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 1314220	NM_000237.3(LPL):c.885A>C (p.Glu295Asp)	LPL (E295D)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +2 more	GUncertain significance
Select item 1165810	NM_000237.3(LPL):c.1018+34A>G	LPL	Single nucleotide variant (intron variant)	Hyperlipoproteinemia, type I +2 more	GBenign/Likely benign
Select item 1343454	NM_000237.3(LPL):c.1123A>G (p.Asn375Asp)	LPL (N375D)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GUncertain significance
Select item 1537	NM_000237.3(LPL):c.1227G>A (p.Trp409Ter)	LPL (W409*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I +1 more	GPathogenic
Select item 792787	NM_000237.3(LPL):c.1338T>C (p.Ser446=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +3 more	GLikely benign
Select item 1534	NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)	LPL (S474*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I +4 more	GBenign