C3887658[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328388	NM_001204.7(BMPR2):c.530-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 1328389	NM_001204.7(BMPR2):c.2094del (p.Pro698_Leu699insTer)	BMPR2	Deletion (frameshift variant)	Pulmonary venoocclusive disease 1	GLikely pathogenic