"Revvity Omics, Revvity"[submitter] AND "LIPA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323236	NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)	LIPA (L278fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 695045	NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)	LIPA (A191D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
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 78	NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)	LIPA (G266* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 939160	NM_000235.4(LIPA):c.676-2A>T	LIPA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 80	NM_000235.4(LIPA):c.594dup (p.Ala199fs)	LIPA (A199fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 955545	NM_000235.4(LIPA):c.539-2A>G	LIPA	Single nucleotide variant (splice acceptor variant)	Wolman disease +1 more	GPathogenic
Select item 1323237	NM_000235.4(LIPA):c.412G>T (p.Glu138Ter)	LIPA (E138* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

ClinVar