ClinVar (all) for Orgtrack (Select 505865) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 264655	NM_001204.7(BMPR2):c.174_175dup (p.Leu59fs)	BMPR2 (L59fs)	Microsatellite (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 264654	NM_001204.6(BMPR2):c.248-329_418+6029del	BMPR2	Deletion	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 264653	NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val)	BMPR2 (A490V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 264652	NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del)	BMPR2 (E481del)	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 264651	NM_001204.7(BMPR2):c.1277-10_1277-9insGGG	BMPR2	Insertion (intron variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 264650	NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter)	BMPR2 (Q6*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 212815	NM_001204.7(BMPR2):c.853-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 60479	NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp)	KCNK3 (G203D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4 +1 more	GPathogenic
Select item 8802	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2 (R491W)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GPathogenic

ClinVar