C4552070[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 409829	NM_001204.7(BMPR2):c.968-5A>G	BMPR2	Single nucleotide variant (intron variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425965	NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)	BMPR2 (R584*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 2056317	NM_001204.7(BMPR2):c.1882A>G (p.Thr628Ala)	BMPR2 (T628A)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 161233	NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	ENG (G214S +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +3 more	GConflicting classifications of pathogenicity
Select item 610	NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	PAH (R261*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 584	NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	PAH (R252W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102706	NM_000277.3(PAH):c.506G>A (p.Arg169His)	PAH (R169H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 68788	NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)	SMAD4 (N13S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity

ClinVar