C2673635[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582396	NM_002778.4(PSAP):c.1192+1G>A	PSAP	Single nucleotide variant (splice donor variant)	Combined PSAP deficiency	GPathogenic
Select item 1413486	NM_002778.4(PSAP):c.1049C>T (p.Pro350Leu)	PSAP (P353L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 13363	NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)	PSAP (C241S)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +2 more	GPathogenic/Likely pathogenic
Select item 418428	NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	PSAP (L137V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1032846	NM_002778.4(PSAP):c.113C>T (p.Thr38Met)	PSAP (T38M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 806507	NM_002778.4(PSAP):c.28C>T (p.Leu10Phe)	PSAP (L10F)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +2 more	GUncertain significance
Select item 1032847	NM_002778.4(PSAP):c.11T>C (p.Leu4Pro)	PSAP (L4P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

ClinVar