C5574740[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255613	NM_000235.4(LIPA):c.966+46C>T	LIPA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255611	NM_000235.4(LIPA):c.676-42G>A	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency +2 more	GBenign
Select item 672051	NM_000235.4(LIPA):c.675+62A>C	LIPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 301580	NM_000235.4(LIPA):c.615C>T (p.Ser205=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +3 more	GConflicting classifications of pathogenicity
Select item 255610	NM_000235.4(LIPA):c.539-5C>T	LIPA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GBenign
Select item 255612	NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)	LIPA (G23R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 195049	NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)	LIPA (T16P)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency +4 more	GBenign/Likely benign
Select item 684268	NM_000235.4(LIPA):c.-1-64G>T	LIPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar