C2673635[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 991964	NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)	PSAP (V398I +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +4 more	GUncertain significance
Select item 1479808	NM_002778.4(PSAP):c.695G>A (p.Arg232His)	PSAP (R232H)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +4 more	GUncertain significance
Select item 562226	NM_002778.4(PSAP):c.679_681del (p.Lys227del)	PSAP (K227del)	Deletion (inframe_deletion)	Krabbe disease due to saposin A deficiency +6 more	GPathogenic/Likely pathogenic
Select item 300524	NM_002778.4(PSAP):c.570G>T (p.Gln190His)	PSAP (Q190H)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +5 more	GBenign/Likely benign
Select item 989886	NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)	PSAP (R127C)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +5 more	GUncertain significance
Select item 989890	NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)	PSAP (K23E)	Single nucleotide variant (missense variant)	Gaucher disease due to saposin C deficiency +4 more	GUncertain significance

ClinVar