"OMIM"[submitter] AND "BMPR2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8814	NM_001204.7(BMPR2):c.44del (p.Pro15fs)	BMPR2 (P15fs)	Deletion (frameshift variant)	Pulmonary venoocclusive disease 1 +1 more	GPathogenic
Select item 8816	NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del	BMPR2	Deletion	Pulmonary venoocclusive disease 1 +1 more	GPathogenic
Select item 8815	NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter)	BMPR2 (Y40*)	Single nucleotide variant (nonsense)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 8797	NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)	BMPR2 (S73*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 8799	NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)	BMPR2 (C118W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425771	NM_001204.7(BMPR2):c.355del (p.Ser119fs)	BMPR2 (S119fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8809	NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser)	BMPR2 (C123S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8808	NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)	BMPR2 (C123R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 8804	NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter)	BMPR2 (C169*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8813	NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)	BMPR2 (G182D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 39423	NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter)	BMPR2 (E195*)	Single nucleotide variant (nonsense)	Pulmonary venoocclusive disease 1	GPathogenic
Select item 39422	NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)	BMPR2 (N202Y)	Single nucleotide variant (missense variant)	Pulmonary venoocclusive disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic
Select item 425816	NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs)	BMPR2 (K230fs)	Indel (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 8810	NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)	BMPR2 (R332*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 8800	NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)	BMPR2 (C347Y)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely pathogenic FDA Recognized database
Select item 425872	NM_001204.7(BMPR2):c.1101_1105del (p.Glu368fs)	BMPR2 (E368fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8819	NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter)	BMPR2 (Q433*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 8801	NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly)	BMPR2 (D485G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +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
Select item 8806	NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)	BMPR2 (R491Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425996	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	BMPR2 (N861fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 8805	NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)	BMPR2 (R873*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8796	NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2 (R899*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 8811	NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro)	BMPR2 (R899P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8818	NC_000002.12:g.(?_202376327_202567749_?)del	BMPR2	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8817	NG_009363.1:g.(161407_170984)_(171122_181389)del	BMPR2	Deletion	Pulmonary hypertension, primary, 1	GPathogenic

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Items: 27