C0878683[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8095	NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	PROP1 (R120C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8098	NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	PROP1 (L102fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 8100	NM_006261.5(PROP1):c.263T>C (p.Phe88Ser)	PROP1 (F88S)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2	GPathogenic
Select item 8102	NM_006261.5(PROP1):c.150del (p.Arg53fs)	PROP1 (R53fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 8101	NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	PROP1 (S38fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic
Select item 576	NM_000277.3(PAH):c.1315+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenicFDA Recognized database

ClinVar