Related gene-specific medical variations for Gene (Select 3988) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244815	NC_000010.10:g.(?_90988092)_(90997504_?)del	LIPA	Deletion	Wolman disease	GLikely pathogenic
Select item 3244814	NC_000010.10:g.(?_90974585)_(90975786_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3244813	NC_000010.10:g.(?_90974585)_(90988175_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3244812	NC_000010.10:g.(?_90974585)_(90974838_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3244811	NC_000010.10:g.(?_90974585)_(91007408_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3239677	NM_000235.4(LIPA):c.663del (p.His222fs)	LIPA (H106fs +1 more)	Deletion (frameshift variant)	Cholesteryl ester storage disease	GLikely pathogenic
Select item 1323237	NM_000235.4(LIPA):c.412G>T (p.Glu138Ter)	LIPA (E138* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 989898	NM_000235.4(LIPA):c.676-25T>C	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 931956	NM_000235.4(LIPA):c.851C>T (p.Ser284Phe)	LIPA (S168F +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance

ClinVar