"Rare Disease Genomics Group, St George's University of London"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425667	NC_000002.12:g.202249539_202474756del225218	LOC129935430, LOC129935431 +12 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425668	NM_001204.7(BMPR2):c.-947_-946delinsAT	BMPR2	Indel (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 333629	NM_001204.7(BMPR2):c.-669G>A	BMPR2, LOC129935434	Single nucleotide variant (5 prime UTR variant)	Pulmonary arterial hypertension	GBenign FDA Recognized database
Select item 425670	NM_001204.6(BMPR2):c.(?_-540)_(*1_?)del	BMPR2, LOC129935435 +1 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425669	NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425675	NM_001204.6(BMPR2):c.(?_-1)_(*1_?)del	BMPR2, LOC129935435 +1 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425674	NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425673	NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425672	NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425671	NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425676	NM_001204.7(BMPR2):c.9dup (p.Ser4fs)	BMPR2 (S4fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425677	NM_001204.7(BMPR2):c.16_20del (p.Gln6fs)	BMPR2 (Q6fs)	Deletion (frameshift 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 425678	NM_001204.7(BMPR2):c.21del (p.Trp9fs)	BMPR2 (W9fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425679	NM_001204.7(BMPR2):c.21_29delinsA (p.Pro8fs)	BMPR2 (P8fs)	Indel (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425680	NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)	BMPR2 (W9*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 425681	NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp)	BMPR2 (R10W)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425682	NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter)	BMPR2 (W13*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +1 more	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 425685	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2 (W16*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425686	NM_001204.6(BMPR2):c.51_814del	BMPR2, LOC129935435	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425687	NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu)	BMPR2 (A24E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425698	NM_001204.6(BMPR2):c.(76+1_77-1)_(*1_?)del	BMPR2, LOC129935435 +1 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425688	NM_001204.7(BMPR2):c.76+1G>T	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1	GPathogenic
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 425690	NM_001204.7(BMPR2):c.76+5G>A	BMPR2	Single nucleotide variant (intron variant)	Pulmonary arterial hypertension +1 more	GPathogenic/Likely pathogenic
Select item 425691	NM_001204.7(BMPR2):c.77-35_86del	BMPR2	Deletion (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425692	NM_001204.7(BMPR2):c.77-1G>A	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 417478	NM_001204.6(BMPR2):c.77-?_418+?del	BMPR2	Deletion	Pulmonary hypertension, primary, 1	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 425699	NM_001204.7(BMPR2):c.82C>T (p.Gln28Ter)	BMPR2 (Q28*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425700	NM_001204.7(BMPR2):c.88C>T (p.Gln30Ter)	BMPR2 (Q30*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425701	NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter)	BMPR2 (E31*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 425702	NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg)	BMPR2 (C34R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GPathogenic FDA Recognized database
Select item 425703	NM_001204.7(BMPR2):c.103del (p.Ala35fs)	BMPR2 (A35fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425704	NM_001204.7(BMPR2):c.116del (p.Pro39fs)	BMPR2 (P39fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425705	NM_001204.7(BMPR2):c.124C>T (p.Gln42Ter)	BMPR2 (Q42*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425706	NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)	BMPR2 (Q42R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GPathogenic
Select item 425707	NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp)	BMPR2 (G47D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GPathogenic
Select item 425708	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 425709	NM_001204.7(BMPR2):c.168del (p.Thr57fs)	BMPR2 (T57fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425711	NM_001204.7(BMPR2):c.178T>G (p.Cys60Gly)	BMPR2 (C60G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425710	NM_001204.7(BMPR2):c.178T>C (p.Cys60Arg)	BMPR2 (C60R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425712	NM_001204.7(BMPR2):c.179G>A (p.Cys60Tyr)	BMPR2 (C60Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425713	NM_001204.7(BMPR2):c.186_187insTACC (p.Gly63fs)	BMPR2 (G63fs)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425715	NM_001204.7(BMPR2):c.189_209del (p.Ser64_Trp70del)	BMPR2	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425714	NM_001204.7(BMPR2):c.189_207delinsGGAGCATAATCAAA (p.Ser64fs)	BMPR2 (S64fs)	Indel (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425717	NM_001204.7(BMPR2):c.196T>G (p.Cys66Gly)	BMPR2 (C66G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425716	NM_001204.7(BMPR2):c.196T>C (p.Cys66Arg)	BMPR2 (C66R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425718	NM_001204.7(BMPR2):c.197G>A (p.Cys66Tyr)	BMPR2 (C66Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425720	NM_001204.7(BMPR2):c.200dup (p.Tyr67Ter)	BMPR2 (Y67*)	Duplication (nonsense)	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 425721	NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter)	BMPR2 (Y67*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 425722	NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp)	BMPR2 (G68D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425724	NM_001204.7(BMPR2):c.237del (p.Leu79_Val80insTer)	BMPR2	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425723	NM_001204.7(BMPR2):c.236_238delinsAAAAGGGGACA (p.Leu79fs)	BMPR2 (L79fs)	Indel (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425725	NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter)	BMPR2 (K81*)	Insertion (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic FDA Recognized database
Select item 425728	NM_001204.7(BMPR2):c.246dup (p.Gly83fs)	BMPR2 (G83fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425726	NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter)	BMPR2 (Q82*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
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 425731	NM_001204.7(BMPR2):c.247+1_247+7del	BMPR2	Deletion (splice donor variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 425729	NM_001204.7(BMPR2):c.247G>A (p.Gly83Arg)	BMPR2 (G83R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425730	NM_001204.7(BMPR2):c.247+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425732	NM_001204.7(BMPR2):c.247+2del	BMPR2	Deletion (splice donor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425733	NM_001204.7(BMPR2):c.247+6T>G	BMPR2	Single nucleotide variant (intron variant)	Pulmonary arterial hypertension	GLikely pathogenic FDA Recognized database
Select item 425734	NM_001204.7(BMPR2):c.248-592_413delinsGTAAAGTA	BMPR2	Indel (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425735	NM_001204.7(BMPR2):c.248-5_248delinsAC	BMPR2	Indel (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425736	NM_001204.7(BMPR2):c.248-3T>G	BMPR2	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425737	NM_001204.7(BMPR2):c.248-2A>G	BMPR2	Single nucleotide variant (splice acceptor variant)	Primary pulmonary hypertension	GLikely pathogenic
Select item 425738	NM_001204.7(BMPR2):c.248-1G>A	BMPR2	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425741	NM_001204.7(BMPR2):c.248G>A (p.Gly83Glu)	BMPR2 (G83E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425743	NM_001204.7(BMPR2):c.250T>G (p.Cys84Gly)	BMPR2 (C84G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425742	NM_001204.7(BMPR2):c.250T>C (p.Cys84Arg)	BMPR2 (C84R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425744	NM_001204.7(BMPR2):c.251G>T (p.Cys84Phe)	BMPR2 (C84F)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
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 425746	NM_001204.7(BMPR2):c.260dup (p.His87fs)	BMPR2 (H87fs)	Duplication (frameshift variant)	Primary pulmonary hypertension	GPathogenic
Select item 425747	NM_001204.7(BMPR2):c.266G>C (p.Gly89Ala)	BMPR2 (G89A)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 425748	NM_001204.7(BMPR2):c.274C>T (p.Gln92Ter)	BMPR2 (Q92*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425749	NM_001204.7(BMPR2):c.277dup (p.Glu93fs)	BMPR2 (E93fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 225305	NM_001204.7(BMPR2):c.276A>C (p.Gln92His)	BMPR2 (Q92H)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 425751	NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly)	BMPR2 (C94G)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425750	NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg)	BMPR2 (C94R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic
Select item 425753	NM_001204.7(BMPR2):c.292G>T (p.Glu98Ter)	BMPR2 (E98*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425752	NM_001204.7(BMPR2):c.292G>A (p.Glu98Lys)	BMPR2 (E98K)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 212816	NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)	BMPR2 (C99R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 425755	NM_001204.7(BMPR2):c.296G>T (p.Cys99Phe)	BMPR2 (C99F)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425754	NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr)	BMPR2 (C99Y)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GPathogenic
Select item 425756	NM_001204.7(BMPR2):c.304A>G (p.Thr102Ala)	BMPR2 (T102A)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GPathogenic
Select item 425757	NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro)	BMPR2 (S107P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425758	NM_001204.7(BMPR2):c.320C>G (p.Ser107Ter)	BMPR2 (S107*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425760	NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter)	BMPR2 (Y113*)	Duplication (nonsense)	Primary pulmonary hypertension	GPathogenic
Select item 425759	NM_001204.7(BMPR2):c.338A>G (p.Tyr113Cys)	BMPR2 (Y113C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425763	NM_001204.7(BMPR2):c.339_340insAA (p.Arg114fs)	BMPR2 (R114fs)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425762	NM_001204.7(BMPR2):c.339C>G (p.Tyr113Ter)	BMPR2 (Y113*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425761	NM_001204.7(BMPR2):c.339C>A (p.Tyr113Ter)	BMPR2 (Y113*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425764	NM_001204.7(BMPR2):c.345_346del (p.Phe115fs)	BMPR2 (F115fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425765	NM_001204.7(BMPR2):c.349T>C (p.Cys117Arg)	BMPR2 (C117R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 425767	NM_001204.7(BMPR2):c.350G>C (p.Cys117Ser)	BMPR2 (C117S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GPathogenic
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

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