C2936797[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301571	NM_000235.4(LIPA):c.*151C>T	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency +1 more	GUncertain significance
Select item 499076	NM_000235.4(LIPA):c.966+3A>T	LIPA	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 203361	NM_000235.4(LIPA):c.894G>A (p.Gln298=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 289986	NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)	LIPA	Deletion (nonsense)	Wolman disease +2 more	GPathogenic
Select item 301582	NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)	LIPA (R127Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 528226	NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)	LIPA (R127W +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 88770	NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	LIPA (G87V)	Single nucleotide variant (missense variant +1 more)	Wolman disease +3 more	GPathogenic/Likely pathogenic
Select item 558291	NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)	LIPA (R65*)	Single nucleotide variant (nonsense +1 more)	Lysosomal acid lipase deficiency +1 more	GPathogenic

ClinVar