"Wendy Chung Laboratory, Columbia University Medical Center"[submitter - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 425683	NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter)	BMPR2 (W13*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425684	NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter)	BMPR2 (W16*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 812793	NM_001204.7(BMPR2):c.76+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 425689	NM_001204.7(BMPR2):c.76+2T>C	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425719	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	BMPR2 (Y67C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GPathogenic
Select item 548688	NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys)	BMPR2 (E71K)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GUncertain significance
Select item 1339369	NM_001204.7(BMPR2):c.218C>A (p.Ser73Ter)	BMPR2 (S73*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 812796	NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr)	BMPR2 (C84Y)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425745	NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter)	BMPR2 (W85*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 212816	NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)	BMPR2 (C99R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1339373	NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp)	BMPR2 (C99W)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 425766	NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)	BMPR2 (C117Y)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 425768	NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)	BMPR2 (C118Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 8808	NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)	BMPR2 (C123R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 212817	NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)	BMPR2 (N126S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +1 more	GPathogenic/Likely pathogenic
Select item 548685	NM_001204.7(BMPR2):c.419-38del	BMPR2	Deletion (intron variant)	Pulmonary arterial hypertension	GBenign FDA Recognized database
Select item 1339375	NM_001204.7(BMPR2):c.419-1G>T	BMPR2	Single nucleotide variant (splice acceptor variant)	Primary pulmonary hypertension	GLikely pathogenic
Select item 222513	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2 (R147*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 811173	NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)	BMPR2 (G177R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548686	NM_001204.7(BMPR2):c.529+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 280019	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2 (R213*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1339382	NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys)	BMPR2 (R259C)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with another disease +2 more	Gnot provided
Select item 212810	NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)	BMPR2 (R266T)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 212809	NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)	BMPR2 (Y282*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 425831	NM_001204.7(BMPR2):c.852+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	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 425833	NM_001204.7(BMPR2):c.853-1G>A	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary arterial hypertension +1 more	GPathogenic/Likely pathogenic
Select item 1339390	NM_001204.7(BMPR2):c.935T>C (p.Leu312Pro)	BMPR2 (L312P)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339392	NM_001204.7(BMPR2):c.947A>G (p.His316Arg)	BMPR2 (H316R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339393	NM_001204.7(BMPR2):c.967G>A (p.Asp323Asn)	BMPR2 (D323N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339396	NM_001204.7(BMPR2):c.995G>C (p.Arg332Pro)	BMPR2 (R332P)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
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 425876	NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)	BMPR2 (E376*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 280837	NM_001204.7(BMPR2):c.1128+1G>C	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 212811	NM_001204.7(BMPR2):c.1128+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 1339399	NM_001204.7(BMPR2):c.1154C>G (p.Pro385Arg)	BMPR2 (P385R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339401	NM_001204.7(BMPR2):c.1175T>A (p.Val392Glu)	BMPR2 (V392E)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease +2 more	Gnot provided
Select item 548926	NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)	BMPR2	Indel (nonsense +2 more)	Pulmonary arterial hypertension associated with congenital heart disease	GLikely pathogenic
Select item 425911	NM_001204.7(BMPR2):c.1276+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension associated with congenital heart disease	GLikely pathogenic
Select item 1303232	NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe)	BMPR2 (S454F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425935	NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter)	BMPR2 (W466*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425938	NM_001204.7(BMPR2):c.1413+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425947	NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)	BMPR2 (W484*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 425950	NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val)	BMPR2 (D487V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 8802	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2 (R491W)	Single nucleotide variant (missense variant)	not provided +3 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 425952	NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter)	BMPR2 (Q495*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1339408	NM_001204.7(BMPR2):c.1492G>A (p.Glu498Lys)	BMPR2 (E498K)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with another disease +2 more	Gnot provided
Select item 409828	NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)	BMPR2 (E503D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 1339409	NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter)	BMPR2 (W508*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1069660	NM_001204.7(BMPR2):c.1748dup (p.Asn583fs)	BMPR2 (N583fs)	Duplication (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 1339412	NM_001204.7(BMPR2):c.1744A>T (p.Lys582Ter)	BMPR2 (K582*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339413	NM_001204.7(BMPR2):c.1939_1940del (p.Gln647fs)	BMPR2 (Q647fs)	Microsatellite (frameshift variant)	Pulmonary arterial hypertension associated with another disease	Gnot provided
Select item 1339414	NM_001204.7(BMPR2):c.1958del (p.Pro653fs)	BMPR2 (P653fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 425972	NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter)	BMPR2 (E661*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1339415	NM_001204.7(BMPR2):c.2073dup (p.Gln692fs)	BMPR2 (Q692fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 1339416	NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser)	BMPR2 (A714S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GBenign
Select item 1339417	NM_001204.7(BMPR2):c.2146G>T (p.Glu716Ter)	BMPR2 (E716*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 845712	NM_001204.7(BMPR2):c.2202del (p.Pro735fs)	BMPR2 (P735fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 650617	NM_001204.7(BMPR2):c.2216del (p.Pro739fs)	BMPR2 (P739fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1339359	NM_001204.7(BMPR2):c.2268del (p.Ser757fs)	BMPR2 (S757fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 548687	NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)	BMPR2 (E785K)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 1339360	NM_001204.7(BMPR2):c.2396dup (p.His800fs)	BMPR2 (H800fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 425984	NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs)	BMPR2 (V804fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1069537	NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)	BMPR2 (N817fs)	Deletion (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 1339361	NM_001204.7(BMPR2):c.2457_2464del (p.Ala820fs)	BMPR2 (A820fs)	Deletion (frameshift variant)	Drug- or toxin-induced pulmonary arterial hypertension +1 more	Gnot provided
Select item 425996	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	BMPR2 (N861fs)	Deletion (frameshift variant)	Primary pulmonary hypertension +1 more	GPathogenic
Select item 8805	NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)	BMPR2 (R873*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	GPathogenic/Likely pathogenic
Select item 1339362	NM_001204.7(BMPR2):c.2651_2652insAT (p.Asp885fs)	BMPR2 (D885fs)	Insertion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided
Select item 8796	NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2 (R899*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 426004	NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter)	BMPR2 (C910*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1339364	NM_001204.7(BMPR2):c.2952del (p.Trp984fs)	BMPR2 (W984fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension +1 more	Gnot provided

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Items: 75