"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LPL"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379804	NM_000237.3(LPL):c.143A>T (p.Asp48Val)	LPL (D48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233749	NM_000237.3(LPL):c.149C>G (p.Ala50Gly)	LPL (A50G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1524	NM_000237.3(LPL):c.397C>T (p.Gln133Ter)	LPL (Q133*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
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 1684865	NM_000237.3(LPL):c.685C>G (p.His229Asp)	LPL (H229D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2735129	NM_000237.3(LPL):c.710G>A (p.Gly237Asp)	LPL (G237D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 632073	NM_000237.3(LPL):c.998G>A (p.Arg333His)	LPL (R333H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1771919	NM_000237.3(LPL):c.1033G>A (p.Val345Ile)	LPL (V345I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3379805	NM_000237.3(LPL):c.1060A>G (p.Ser354Gly)	LPL (S354G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677766	NM_000237.3(LPL):c.1250G>A (p.Trp417Ter)	LPL (W417*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 1771384	NM_000237.3(LPL):c.1385T>C (p.Phe462Ser)	LPL (F462S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance