C0023817[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523886	NM_000237.3(LPL):c.784C>T (p.Gln262Ter)	LPL (Q262*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia +2 more	GConflicting classifications of pathogenicity
Select item 1556	NM_000237.3(LPL):c.987C>A (p.Tyr329Ter)	LPL (Y329*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I	GPathogenic
Select item 973587	NM_000237.3(LPL):c.1139+1G>A	LPL	Single nucleotide variant (splice donor variant)	Hyperlipoproteinemia, type I +1 more	GLikely pathogenic
Select item 973588	NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs)	LPL (K387fs)	Insertion (frameshift variant)	Hyperlipoproteinemia, type I	GLikely pathogenic

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