C0023817[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1552	NM_000237.3(LPL):c.106G>A (p.Asp36Asn)	LPL (D36N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign; other
Select item 908634	NM_000237.3(LPL):c.134C>A (p.Thr45Asn)	LPL (T45N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339047	NM_000237.3(LPL):c.242G>A (p.Gly81Asp)	LPL (G81D)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +2 more	GPathogenic/Likely pathogenic
Select item 1684861	NM_000237.3(LPL):c.373G>A (p.Ala125Thr)	LPL (A125T)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GUncertain significance
Select item 1066635	NM_000237.3(LPL):c.547G>A (p.Asp183Asn)	LPL (D183N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GPathogenic/Likely pathogenic
Select item 1529	NM_000237.3(LPL):c.662T>C (p.Ile221Thr)	LPL (I221T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1527	NM_000237.3(LPL):c.701C>T (p.Pro234Leu)	LPL (P234L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 1550	NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	LPL (N318S)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +4 more	GConflicting classifications of pathogenicity
Select item 632073	NM_000237.3(LPL):c.998G>A (p.Arg333His)	LPL (R333H)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GConflicting classifications of pathogenicity
Select item 1543	NM_000237.3(LPL):c.1081G>A (p.Ala361Thr)	LPL (A361T)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic