C1843366[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550596	NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)	NPC2 (N111K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 377030	NM_006432.5(NPC2):c.292A>C (p.Asn98His)	NPC2 (N98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 290576	NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)	NPC2 (D91N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2 +2 more	GUncertain significance
Select item 183281	NM_006432.5(NPC2):c.88G>A (p.Val30Met)	NPC2, ACYP1 (V30M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2 +2 more	GBenign/Likely benign
Select item 990180	NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)	NPC2 (E20K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
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

ClinVar