"Revvity Omics, Revvity"[submitter] AND "NPC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100734	NM_006432.5(NPC2):c.441+1G>A	ACYP1, NPC2 (V148I)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2690655	NM_006432.5(NPC2):c.363+1G>A	NPC2	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 8480	NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	NPC2 (E118*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2 +1 more	GPathogenic
Select item 8479	NM_006432.5(NPC2):c.190+5G>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GPathogenic/Likely pathogenic
Select item 8477	NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	NPC2 (E20*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2 +2 more	GPathogenic
Select item 990181	NM_006432.5(NPC2):c.-1G>C	NPC2	Single nucleotide variant (5 prime UTR variant)	Niemann-Pick disease, type C2	GUncertain significance

ClinVar