ClinVar for MedGen (Select 369987) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425946	NM_001204.7(BMPR2):c.1447T>C (p.Cys483Arg)	BMPR2 (C483R)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 425727	NM_001204.7(BMPR2):c.246A>C (p.Gln82His)	BMPR2 (Q82H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, dexfenfluramine-associated	GPathogenic
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic

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