"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LPL"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 764668	NM_000237.3(LPL):c.189C>T (p.Ser63=)	LPL	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1100360	NM_000237.3(LPL):c.213C>T (p.His71=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 719805	NM_000237.3(LPL):c.345A>C (p.Ser115=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2583060	NM_000237.3(LPL):c.662T>A (p.Ile221Asn)	LPL (I221N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1165810	NM_000237.3(LPL):c.1018+34A>G	LPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 798797	NM_000237.3(LPL):c.1074C>T (p.Thr358=)	LPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 495741	NM_000237.3(LPL):c.1135A>G (p.Thr379Ala)	LPL (T379A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1766069	NM_000237.3(LPL):c.1273G>A (p.Gly425Ser)	LPL (G425S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 362438	NM_000237.3(LPL):c.*1167C>A	LPL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic