"OMIM"[submitter] AND "LIPA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 81	NM_000235.4(LIPA):c.894+1G>A	LIPA	Single nucleotide variant (splice donor variant)	Wolman disease	GPathogenic
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 867231	NM_000235.4(LIPA):c.600G>A (p.Leu200=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 77	NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)	LIPA (L200P +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GPathogenic/Likely pathogenic
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 552285	NM_000235.4(LIPA):c.482del (p.Asn161fs)	LIPA (N161fs +1 more)	Deletion (frameshift variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 82	NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter)	LIPA (Y43*)	Single nucleotide variant (nonsense +1 more)	Wolman disease	GPathogenic

ClinVar