Bmpr2 Variant Search Result - Rat Genome Database

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1001 records found for search term Bmpr2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8560714	CV23837	deletion	BMPR2, 1-BP DEL, 355A	Primary pulmonary hypertension [RCV000009343]	pathogenic				Human	1	name
8560713	CV23834	deletion	BMPR2, 1-BP DEL, 2579T	Primary pulmonary hypertension [RCV000009340]	pathogenic				Human	1	name
8560715	CV23842	deletion	BMPR2, 5-BP DEL, NT1099	Pulmonary hypertension, primary, 1 [RCV000009348]	pathogenic				Human		name
11592276	CV284783	single nucleotide variant	NM_001204.7(BMPR2):c.-70G>T	Pulmonary hypertension, primary, 1 [RCV000337351]	uncertain significance	2	202377405	202377405	Human	1	name
11657650	CV284805	single nucleotide variant	NM_001204.7(BMPR2):c.*77A>G	Pulmonary hypertension, primary, 1 [RCV000343036]	uncertain significance	2	202560023	202560023	Human	1	name
11649149	CV284806	deletion	NM_001204.7(BMPR2):c.*79del	Pulmonary hypertension, primary, 1 [RCV000285789]	uncertain significance	2	202560016	202560016	Human	1	name
11587303	CV286666	single nucleotide variant	NM_001204.7(BMPR2):c.-93A>G	Pulmonary arterial hypertension [RCV003150164]\|Pulmonary hypertension, primary, 1 [RCV000294166]	benign\|likely benign\|uncertain significance	2	202377382	202377382	Human	3	name
150419219	CV1193057	single nucleotide variant	NM_001204.7(BMPR2):c.-921A>G	not provided [RCV001569585]	likely benign	2	202376554	202376554	Human		name
156349447	CV1889778	single nucleotide variant	NM_001204.7(BMPR2):c.76+8G>C	Primary pulmonary hypertension [RCV003090852]	likely benign	2	202377558	202377558	Human	2	name
11589620	CV283987	single nucleotide variant	NM_001204.7(BMPR2):c.-933G>A	Pulmonary hypertension, primary, 1 [RCV000311910]	uncertain significance	2	202376542	202376542	Human	1	name
11644692	CV283993	single nucleotide variant	NM_001204.7(BMPR2):c.-871G>A	Pulmonary hypertension, primary, 1 [RCV000261522]	uncertain significance	2	202376604	202376604	Human	1	name
11650247	CV284000	single nucleotide variant	NM_001204.7(BMPR2):c.-594A>G	Primary pulmonary hypertension [RCV002521363]\|Pulmonary hypertension, primary, 1 [RCV000291982]	uncertain significance	2	202376881	202376881	Human	3	name
11591079	CV284001	single nucleotide variant	NM_001204.7(BMPR2):c.-575A>T	Pulmonary hypertension, primary, 1 [RCV000325655]	uncertain significance	2	202376900	202376900	Human	1	name
11662894	CV284007	single nucleotide variant	NM_001204.7(BMPR2):c.*241C>T	Pulmonary hypertension, primary, 1 [RCV000390450]	uncertain significance	2	202560187	202560187	Human	1	name
11652768	CV284011	deletion	NM_001204.7(BMPR2):c.*309del	Pulmonary hypertension, primary, 1 [RCV000307039]\|not provided [RCV001547119]	likely benign	2	202560249	202560249	Human	1	name
11584801	CV284014	single nucleotide variant	NM_001204.7(BMPR2):c.*454G>A	Pulmonary hypertension, primary, 1 [RCV000276621]	uncertain significance	2	202560400	202560400	Human	1	name
11588091	CV284758	single nucleotide variant	NM_001204.7(BMPR2):c.-927A>G	Pulmonary hypertension, primary, 1 [RCV000300383]\|not provided [RCV001590977]	benign\|likely benign	2	202376548	202376548	Human	1	name
11659013	CV284773	single nucleotide variant	NM_001204.7(BMPR2):c.-922C>T	Pulmonary hypertension, primary, 1 [RCV000354035]	uncertain significance	2	202376553	202376553	Human	1	name
11654966	CV284780	single nucleotide variant	NM_001204.7(BMPR2):c.-702C>T	Pulmonary hypertension, primary, 1 [RCV000322276]	uncertain significance	2	202376773	202376773	Human	1	name
11588494	CV284814	single nucleotide variant	NM_001204.7(BMPR2):c.*130G>C	Pulmonary hypertension, primary, 1 [RCV000303519]	benign\|likely benign	2	202560076	202560076	Human	1	name
11654126	CV284816	single nucleotide variant	NM_001204.7(BMPR2):c.*686C>G	Pulmonary hypertension, primary, 1 [RCV000315357]	uncertain significance	2	202560632	202560632	Human	1	name
11659855	CV286647	single nucleotide variant	NM_001204.7(BMPR2):c.-753C>T	Pulmonary hypertension, primary, 1 [RCV000361983]	uncertain significance	2	202376722	202376722	Human	1	name
11583163	CV286649	single nucleotide variant	NM_001204.7(BMPR2):c.-704C>G	Pulmonary hypertension, primary, 1 [RCV000264866]	benign\|likely benign	2	202376771	202376771	Human	1	name
11596564	CV286657	single nucleotide variant	NM_001204.7(BMPR2):c.-669G>A	Primary pulmonary hypertension [RCV001516961]\|Pulmonary arterial hypertension [RCV004549755]\|Pulmonary hypertension, primary, 1 [RCV000383967]\|Pulmonary hypertension, primary, 1 [RCV002502289]\|not provided [RCV001812872]\|not specified [RCV002248619]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	202376806	202376806	Human	4	name
11662064	CV286658	single nucleotide variant	NM_001204.7(BMPR2):c.-407G>T	Pulmonary hypertension, primary, 1 [RCV000382626]\|Pulmonary hypertension, primary, 1 [RCV002504125]	uncertain significance	2	202377068	202377068	Human	1	name
11587421	CV286662	single nucleotide variant	NM_001204.7(BMPR2):c.-310A>G	Pulmonary hypertension, primary, 1 [RCV000295125]	likely benign	2	202377165	202377165	Human	1	name
11593783	CV286663	single nucleotide variant	NM_001204.7(BMPR2):c.-301G>A	BMPR2-related disorder [RCV004549756]\|Primary pulmonary hypertension [RCV001523054]\|Pulmonary hypertension, primary, 1 [RCV000352329]\|Pulmonary hypertension, primary, 1 [RCV002487481]\|not provided [RCV001558624]	benign\|likely benign	2	202377174	202377174	Human	3	name , alternate_id
11663467	CV286664	duplication	NM_001204.7(BMPR2):c.-212dup	Pulmonary hypertension, primary, 1 [RCV000396418]\|not provided [RCV001707659]	benign\|likely benign	2	202377256	202377257	Human	1	name
11597983	CV286698	single nucleotide variant	NM_001204.7(BMPR2):c.*106C>T	Pulmonary hypertension, primary, 1 [RCV000400416]\|not provided [RCV004708473]	benign\|likely benign	2	202560052	202560052	Human	1	name
11590191	CV286709	single nucleotide variant	NM_001204.7(BMPR2):c.*815C>T	Pulmonary hypertension, primary, 1 [RCV000316858]\|Pulmonary hypertension, primary, 1 [RCV002487482]	likely benign\|uncertain significance	2	202560761	202560761	Human	1	name
11595507	CV286710	single nucleotide variant	NM_001204.7(BMPR2):c.*995G>A	Pulmonary hypertension, primary, 1 [RCV000371480]	benign\|likely benign	2	202560941	202560941	Human	1	name
11655138	CV287129	single nucleotide variant	NM_001204.7(BMPR2):c.-837G>T	Pulmonary hypertension, primary, 1 [RCV000323582]	uncertain significance	2	202376638	202376638	Human	1	name
11593240	CV287153	single nucleotide variant	NM_001204.7(BMPR2):c.*221C>T	Pulmonary hypertension, primary, 1 [RCV000346748]	benign\|likely benign	2	202560167	202560167	Human	1	name
11594863	CV287154	single nucleotide variant	NM_001204.7(BMPR2):c.*378T>G	Pulmonary hypertension, primary, 1 [RCV000364170]	benign\|likely benign	2	202560324	202560324	Human	1	name
11595180	CV287156	single nucleotide variant	NM_001204.7(BMPR2):c.*700T>C	Pulmonary hypertension, primary, 1 [RCV000367743]	uncertain significance	2	202560646	202560646	Human	1	name
11584726	CV287159	single nucleotide variant	NM_001204.7(BMPR2):c.*806C>T	Primary pulmonary hypertension [RCV001518450]\|Pulmonary hypertension, primary, 1 [RCV000275803]\|not provided [RCV004708474]	benign	2	202560752	202560752	Human	6	name
11584726	CV287159	single nucleotide variant	NM_001204.7(BMPR2):c.*806C>T	Primary pulmonary hypertension [RCV001518450]\|Pulmonary hypertension, primary, 1 [RCV000275803]\|not provided [RCV004708474]	benign	2	202560752	202560753	Human	6	name
405088779	CV2907671	single nucleotide variant	NM_001204.7(BMPR2):c.76+2T>A	Primary pulmonary hypertension [RCV003596937]	pathogenic	2	202377552	202377552	Human	2	name
405090925	CV2916609	single nucleotide variant	NM_001204.7(BMPR2):c.77-6T>G	Primary pulmonary hypertension [RCV003597009]	uncertain significance	2	202464803	202464803	Human	2	name
12905122	CV414082	single nucleotide variant	NM_001204.7(BMPR2):c.76+1G>T	Pulmonary hypertension, primary, 1 [RCV000488483]	pathogenic	2	202377551	202377551	Human	1	name
12905183	CV414083	single nucleotide variant	NM_001204.7(BMPR2):c.76+2T>C	Pulmonary arterial hypertension [RCV001823908]\|Pulmonary hypertension, primary, 1 [RCV000488560]	pathogenic\|not provided	2	202377552	202377552	Human	3	name
12905326	CV414084	single nucleotide variant	NM_001204.7(BMPR2):c.76+5G>A	Pulmonary arterial hypertension [RCV001003647]\|Pulmonary hypertension, primary, 1 [RCV000488747]	pathogenic\|likely pathogenic	2	202377555	202377555	Human	3	name
12905252	CV414086	single nucleotide variant	NM_001204.7(BMPR2):c.77-1G>A	Pulmonary hypertension, primary, 1 [RCV000488646]	pathogenic	2	202464808	202464808	Human	1	name
21406060	CV799280	single nucleotide variant	NM_001204.7(BMPR2):c.*621G>A	not specified [RCV001001853]	benign	2	202560567	202560567	Human		name
21404687	CV801233	single nucleotide variant	NM_001204.7(BMPR2):c.76+1G>A	Pulmonary arterial hypertension [RCV001003645]\|Pulmonary arterial hypertension [RCV001823931]	likely pathogenic\|not provided	2	202377551	202377551	Human	2	name
21404688	CV801234	single nucleotide variant	NM_001204.7(BMPR2):c.76+2T>G	Pulmonary arterial hypertension [RCV001003646]	likely pathogenic	2	202377552	202377552	Human	2	name
28892038	CV883357	single nucleotide variant	NM_001204.7(BMPR2):c.-930G>A	Pulmonary hypertension, primary, 1 [RCV001139646]	uncertain significance	2	202376545	202376545	Human	1	name
28894156	CV883358	single nucleotide variant	NM_001204.7(BMPR2):c.-924A>G	Pulmonary arterial hypertension [RCV004548017]\|Pulmonary hypertension, primary, 1 [RCV001140399]\|not provided [RCV001577969]	benign\|likely benign\|uncertain significance	2	202376551	202376551	Human	3	name
28899183	CV883359	single nucleotide variant	NM_001204.7(BMPR2):c.-434G>A	Pulmonary hypertension, primary, 1 [RCV001142260]\|Pulmonary hypertension, primary, 1 [RCV002491425]	uncertain significance	2	202377041	202377041	Human	1	name
28899186	CV883360	single nucleotide variant	NM_001204.7(BMPR2):c.-425G>T	Pulmonary hypertension, primary, 1 [RCV001142261]	uncertain significance	2	202377050	202377050	Human	1	name
28899188	CV883361	single nucleotide variant	NM_001204.7(BMPR2):c.-344G>T	Pulmonary hypertension, primary, 1 [RCV001142262]	uncertain significance	2	202377131	202377131	Human	1	name
28899192	CV883362	single nucleotide variant	NM_001204.7(BMPR2):c.-313G>A	Pulmonary hypertension, primary, 1 [RCV001142263]	uncertain significance	2	202377162	202377162	Human	1	name
28894750	CV883383	single nucleotide variant	NM_001204.7(BMPR2):c.*121C>A	Pulmonary hypertension, primary, 1 [RCV001140619]	uncertain significance	2	202560067	202560067	Human	1	name
28894755	CV883384	single nucleotide variant	NM_001204.7(BMPR2):c.*445T>C	Pulmonary hypertension, primary, 1 [RCV001140620]	uncertain significance	2	202560391	202560391	Human	1	name
28894759	CV883385	single nucleotide variant	NM_001204.7(BMPR2):c.*453C>A	Pulmonary hypertension, primary, 1 [RCV001140621]	uncertain significance	2	202560399	202560399	Human	1	name
28899734	CV883386	single nucleotide variant	NM_001204.7(BMPR2):c.*488C>A	Pulmonary hypertension, primary, 1 [RCV001142479]	uncertain significance	2	202560434	202560434	Human	1	name
28899736	CV883387	single nucleotide variant	NM_001204.7(BMPR2):c.*491T>A	Pulmonary hypertension, primary, 1 [RCV001142480]	uncertain significance	2	202560437	202560437	Human	1	name
28899738	CV883388	single nucleotide variant	NM_001204.7(BMPR2):c.*607C>T	Pulmonary hypertension, primary, 1 [RCV001142481]	uncertain significance	2	202560553	202560553	Human	1	name
28899742	CV883389	single nucleotide variant	NM_001204.7(BMPR2):c.*734G>C	Pulmonary hypertension, primary, 1 [RCV001142482]	uncertain significance	2	202560680	202560680	Human	1	name
28886197	CV883390	single nucleotide variant	NM_001204.7(BMPR2):c.*896T>C	Pulmonary hypertension, primary, 1 [RCV001137730]	uncertain significance	2	202560842	202560842	Human	1	name
28886202	CV883391	single nucleotide variant	NM_001204.7(BMPR2):c.*952T>G	Pulmonary hypertension, primary, 1 [RCV001137731]	uncertain significance	2	202560898	202560898	Human	1	name
126748738	CV1024073	single nucleotide variant	NM_001204.7(BMPR2):c.529+4A>G	Primary pulmonary hypertension [RCV001351917]\|Pulmonary hypertension, primary, 1 [RCV005023078]	uncertain significance	2	202513833	202513833	Human	3	name
127301280	CV1112124	single nucleotide variant	NM_001204.7(BMPR2):c.247+8A>T	Primary pulmonary hypertension [RCV001454091]	likely benign	2	202464987	202464987	Human	2	name
127293569	CV1112126	single nucleotide variant	NM_001204.7(BMPR2):c.853-6A>T	Primary pulmonary hypertension [RCV001476621]	likely benign	2	202520081	202520081	Human	2	name
151235736	CV1319003	single nucleotide variant	NM_001204.7(BMPR2):c.530-2A>G	Pulmonary venoocclusive disease 1 [RCV001795820]	pathogenic	2	202514886	202514886	Human	1	name
151662565	CV1330434	single nucleotide variant	NM_001204.7(BMPR2):c.419-1G>T	Primary pulmonary hypertension [RCV002542751]\|Pulmonary arterial hypertension [RCV001823971]	likely pathogenic\|not provided	2	202513718	202513718	Human	3	name
156401097	CV2013365	single nucleotide variant	NM_001204.7(BMPR2):c.852+4A>G	Primary pulmonary hypertension [RCV002726010]	uncertain significance	2	202519056	202519056	Human	2	name
10411123	CV209588	single nucleotide variant	NM_001204.7(BMPR2):c.853-2A>G	Pulmonary arterial hypertension [RCV001003696]\|Pulmonary arterial hypertension [RCV001823878]\|Pulmonary hypertension, primary, 1 [RCV000242870]\|not provided [RCV000199603]	pathogenic\|likely pathogenic\|not provided	2	202520085	202520085	Human	3	name
11590800	CV284015	single nucleotide variant	NM_001204.7(BMPR2):c.*1236C>A	Pulmonary hypertension, primary, 1 [RCV000322495]\|not provided [RCV004709890]	benign\|likely benign	2	202561182	202561182	Human	1	name
11586490	CV284022	single nucleotide variant	NM_001204.7(BMPR2):c.*1732T>C	Pulmonary hypertension, primary, 1 [RCV000288372]\|not provided [RCV004708476]	benign\|likely benign	2	202561678	202561678	Human	1	name
11593368	CV284029	single nucleotide variant	NM_001204.7(BMPR2):c.*1999T>G	Pulmonary hypertension, primary, 1 [RCV000348051]\|not provided [RCV004709891]	benign	2	202561945	202561945	Human	1	name
11663465	CV284031	single nucleotide variant	NM_001204.7(BMPR2):c.*2035C>T	Pulmonary hypertension, primary, 1 [RCV000396113]	uncertain significance	2	202561981	202561981	Human	1	name
11589734	CV284038	single nucleotide variant	NM_001204.7(BMPR2):c.*2173A>G	Pulmonary hypertension, primary, 1 [RCV000312764]	benign\|likely benign	2	202562119	202562119	Human	1	name
11594034	CV284040	single nucleotide variant	NM_001204.7(BMPR2):c.*2833G>A	Pulmonary hypertension, primary, 1 [RCV000354846]\|Pulmonary hypertension, primary, 1 [RCV002480184]	likely benign\|uncertain significance	2	202562779	202562779	Human	1	name
11582433	CV284041	single nucleotide variant	NM_001204.7(BMPR2):c.*2854T>G	Pulmonary hypertension, primary, 1 [RCV000259943]\|Pulmonary hypertension, primary, 1 [RCV002480185]	uncertain significance	2	202562800	202562800	Human	1	name
11591128	CV284049	single nucleotide variant	NM_001204.7(BMPR2):c.*3353T>C	Pulmonary hypertension, primary, 1 [RCV000326167]	likely benign	2	202563299	202563299	Human	1	name
11662524	CV284050	single nucleotide variant	NM_001204.7(BMPR2):c.*3554C>T	Pulmonary hypertension, primary, 1 [RCV000386981]	uncertain significance	2	202563500	202563500	Human	1	name
11597526	CV284054	single nucleotide variant	NM_001204.7(BMPR2):c.*3907G>C	Pulmonary hypertension, primary, 1 [RCV000395350]\|not provided [RCV004708477]	benign	2	202563853	202563853	Human	1	name
11597916	CV284059	single nucleotide variant	NM_001204.7(BMPR2):c.*5031C>T	Pulmonary hypertension, primary, 1 [RCV000399554]	benign\|likely benign	2	202564977	202564977	Human	1	name
11656811	CV284071	single nucleotide variant	NM_001204.7(BMPR2):c.*5781A>G	Pulmonary hypertension, primary, 1 [RCV000336622]	uncertain significance	2	202565727	202565727	Human	1	name
11592882	CV284077	single nucleotide variant	NM_001204.7(BMPR2):c.*5998G>A	Pulmonary hypertension, primary, 1 [RCV000343450]\|not provided [RCV004708478]	benign	2	202565944	202565944	Human	1	name
11598074	CV284078	single nucleotide variant	NM_001204.7(BMPR2):c.*6525G>A	Pulmonary hypertension, primary, 1 [RCV000401301]	likely benign	2	202566471	202566471	Human	1	name
11590157	CV284083	single nucleotide variant	NM_001204.7(BMPR2):c.*7496T>C	Pulmonary hypertension, primary, 1 [RCV000316378]	benign\|likely benign	2	202567442	202567442	Human	1	name
11595844	CV284093	single nucleotide variant	NM_001204.7(BMPR2):c.*7505T>G	Pulmonary hypertension, primary, 1 [RCV000375580]	uncertain significance	2	202567451	202567451	Human	1	name
11582802	CV284094	single nucleotide variant	NM_001204.7(BMPR2):c.*7750G>T	Pulmonary hypertension, primary, 1 [RCV000262411]	uncertain significance	2	202567696	202567696	Human	1	name
11590779	CV284097	single nucleotide variant	NM_001204.7(BMPR2):c.*7776C>T	Pulmonary hypertension, primary, 1 [RCV000322237]	benign\|likely benign	2	202567722	202567722	Human	1	name
11581205	CV284784	single nucleotide variant	NM_001204.7(BMPR2):c.621+8T>C	BMPR2-related disorder [RCV004739687]\|Primary pulmonary hypertension [RCV001507151]\|Pulmonary hypertension, primary, 1 [RCV000360085]\|not provided [RCV005230260]	benign\|likely benign	2	202514987	202514987	Human	3	name , alternate_id
11582865	CV284817	single nucleotide variant	NM_001204.7(BMPR2):c.*1226C>A	Pulmonary hypertension, primary, 1 [RCV000262792]	benign\|likely benign	2	202561172	202561172	Human	1	name
11593483	CV284824	single nucleotide variant	NM_001204.7(BMPR2):c.*2491T>C	Pulmonary hypertension, primary, 1 [RCV000348905]\|Pulmonary hypertension, primary, 1 [RCV002504126]	uncertain significance	2	202562437	202562437	Human	1	name
11598010	CV284828	single nucleotide variant	NM_001204.7(BMPR2):c.*2519A>G	Pulmonary hypertension, primary, 1 [RCV000400642]	likely benign\|uncertain significance	2	202562465	202562465	Human	1	name
11659209	CV284829	deletion	NM_001204.7(BMPR2):c.*2901del	Pulmonary hypertension, primary, 1 [RCV000355979]	uncertain significance	2	202562837	202562837	Human	1	name
11594621	CV284830	single nucleotide variant	NM_001204.7(BMPR2):c.*3061A>G	Pulmonary hypertension, primary, 1 [RCV000361319]	benign\|uncertain significance	2	202563007	202563007	Human	1	name
11655631	CV284832	duplication	NM_001204.7(BMPR2):c.*3498dup	Pulmonary hypertension, primary, 1 [RCV000327281]\|not provided [RCV004694526]	uncertain significance	2	202563434	202563435	Human	1	name
11579282	CV284844	single nucleotide variant	NM_001204.7(BMPR2):c.*4821G>C	Pulmonary hypertension, primary, 1 [RCV000299651]	uncertain significance	2	202564767	202564767	Human	1	name
11594325	CV284853	single nucleotide variant	NM_001204.7(BMPR2):c.*4905C>A	Pulmonary hypertension, primary, 1 [RCV000358203]	benign\|likely benign	2	202564851	202564851	Human	1	name
11594840	CV284856	single nucleotide variant	NM_001204.7(BMPR2):c.*5044A>G	Pulmonary hypertension, primary, 1 [RCV000363889]	benign\|likely benign	2	202564990	202564990	Human	1	name
11591462	CV284857	single nucleotide variant	NM_001204.7(BMPR2):c.*5152A>G	Pulmonary hypertension, primary, 1 [RCV000329118]	likely benign\|uncertain significance	2	202565098	202565098	Human	1	name
11660223	CV284858	single nucleotide variant	NM_001204.7(BMPR2):c.*5154C>T	Pulmonary hypertension, primary, 1 [RCV000365259]	uncertain significance	2	202565100	202565100	Human	1	name
11585517	CV284861	single nucleotide variant	NM_001204.7(BMPR2):c.*5627G>T	Pulmonary hypertension, primary, 1 [RCV000281715]	likely benign	2	202565573	202565573	Human	1	name
11589130	CV284862	single nucleotide variant	NM_001204.7(BMPR2):c.*6108G>T	Pulmonary hypertension, primary, 1 [RCV000308539]	benign\|likely benign	2	202566054	202566054	Human	1	name
11659961	CV284863	single nucleotide variant	NM_001204.7(BMPR2):c.*6505C>G	Pulmonary hypertension, primary, 1 [RCV000362966]	uncertain significance	2	202566451	202566451	Human	1	name
11647032	CV284877	single nucleotide variant	NM_001204.7(BMPR2):c.*7080G>A	Pulmonary hypertension, primary, 1 [RCV000274006]\|Pulmonary hypertension, primary, 1 [RCV002488713]	uncertain significance	2	202567026	202567026	Human	1	name
11649787	CV286645	single nucleotide variant	NM_001204.7(BMPR2):c.-1114A>C	Pulmonary hypertension, primary, 1 [RCV000289485]	uncertain significance	2	202376361	202376361	Human	1	name
11586330	CV286720	single nucleotide variant	NM_001204.7(BMPR2):c.*1306A>C	Pulmonary hypertension, primary, 1 [RCV000287400]	benign\|likely benign	2	202561252	202561252	Human	1	name
11657557	CV286722	single nucleotide variant	NM_001204.7(BMPR2):c.*1401C>T	Pulmonary hypertension, primary, 1 [RCV000342348]	uncertain significance	2	202561347	202561347	Human	1	name
11596456	CV286736	single nucleotide variant	NM_001204.7(BMPR2):c.*1466T>G	Pulmonary hypertension, primary, 1 [RCV000382772]\|not provided [RCV004708475]	benign	2	202561412	202561412	Human	1	name
11589829	CV286737	single nucleotide variant	NM_001204.7(BMPR2):c.*2769T>A	Pulmonary hypertension, primary, 1 [RCV000313863]	benign\|likely benign	2	202562715	202562715	Human	1	name
11590572	CV286743	single nucleotide variant	NM_001204.7(BMPR2):c.*2939A>G	Pulmonary hypertension, primary, 1 [RCV000320592]	benign\|likely benign	2	202562885	202562885	Human	1	name
11661851	CV286744	single nucleotide variant	NM_001204.7(BMPR2):c.*3354G>T	Pulmonary hypertension, primary, 1 [RCV000380755]\|Pulmonary hypertension, primary, 1 [RCV002488711]	uncertain significance	2	202563300	202563300	Human	1	name
11650358	CV286745	single nucleotide variant	NM_001204.7(BMPR2):c.*3794T>C	Pulmonary hypertension, primary, 1 [RCV000292602]	uncertain significance	2	202563740	202563740	Human	1	name
11597090	CV286746	single nucleotide variant	NM_001204.7(BMPR2):c.*4584T>A	Pulmonary hypertension, primary, 1 [RCV000390137]	benign\|uncertain significance	2	202564530	202564530	Human	1	name
11652336	CV286747	single nucleotide variant	NM_001204.7(BMPR2):c.*5038T>A	Pulmonary hypertension, primary, 1 [RCV000304473]	uncertain significance	2	202564984	202564984	Human	1	name
11646155	CV286753	duplication	NM_001204.7(BMPR2):c.*5111dup	Pulmonary hypertension, primary, 1 [RCV000269441]	uncertain significance	2	202565048	202565049	Human	1	name
11647209	CV286762	single nucleotide variant	NM_001204.7(BMPR2):c.*5198A>C	Pulmonary hypertension, primary, 1 [RCV000275341]	uncertain significance	2	202565144	202565144	Human	1	name
11597055	CV286763	single nucleotide variant	NM_001204.7(BMPR2):c.*5246C>T	Pulmonary hypertension, primary, 1 [RCV000389704]	likely benign\|uncertain significance	2	202565192	202565192	Human	1	name
11650700	CV286764	single nucleotide variant	NM_001204.7(BMPR2):c.*5408G>T	Pulmonary hypertension, primary, 1 [RCV000294682]	uncertain significance	2	202565354	202565354	Human	1	name
11654343	CV286771	single nucleotide variant	NM_001204.7(BMPR2):c.*5522C>T	Pulmonary hypertension, primary, 1 [RCV000316934]	uncertain significance	2	202565468	202565468	Human	1	name
11595511	CV286782	single nucleotide variant	NM_001204.7(BMPR2):c.*5624A>G	Pulmonary hypertension, primary, 1 [RCV000371524]\|Pulmonary hypertension, primary, 1 [RCV002488712]	uncertain significance	2	202565570	202565570	Human	1	name
11597408	CV286792	single nucleotide variant	NM_001204.7(BMPR2):c.*5787T>G	Pulmonary hypertension, primary, 1 [RCV000394046]\|not provided [RCV004709892]	benign	2	202565733	202565733	Human	1	name
11585834	CV286796	single nucleotide variant	NM_001204.7(BMPR2):c.*5946C>T	Pulmonary hypertension, primary, 1 [RCV000283814]	likely benign\|uncertain significance	2	202565892	202565892	Human	1	name
11597407	CV286798	single nucleotide variant	NM_001204.7(BMPR2):c.*6001T>C	Pulmonary hypertension, primary, 1 [RCV000394041]	likely benign	2	202565947	202565947	Human	1	name
11589272	CV286799	single nucleotide variant	NM_001204.7(BMPR2):c.*6695C>T	Pulmonary hypertension, primary, 1 [RCV000309622]	benign\|likely benign	2	202566641	202566641	Human	1	name
11583246	CV287163	single nucleotide variant	NM_001204.7(BMPR2):c.*2901A>C	Pulmonary hypertension, primary, 1 [RCV000265446]	benign\|likely benign	2	202562847	202562847	Human	1	name
11651806	CV287174	duplication	NM_001204.7(BMPR2):c.*2901dup	Pulmonary hypertension, primary, 1 [RCV000301226]	benign	2	202562836	202562837	Human	1	name
11583393	CV287175	single nucleotide variant	NM_001204.7(BMPR2):c.*3350G>T	Pulmonary hypertension, primary, 1 [RCV000266454]	benign\|likely benign	2	202563296	202563296	Human	1	name
11586885	CV287181	single nucleotide variant	NM_001204.7(BMPR2):c.*3446G>A	Pulmonary hypertension, primary, 1 [RCV000290964]	likely benign\|uncertain significance	2	202563392	202563392	Human	1	name
11592001	CV287186	single nucleotide variant	NM_001204.7(BMPR2):c.*4364C>T	Pulmonary hypertension, primary, 1 [RCV000334619]	likely benign\|uncertain significance	2	202564310	202564310	Human	1	name
11591576	CV287187	single nucleotide variant	NM_001204.7(BMPR2):c.*5243T>C	Pulmonary hypertension, primary, 1 [RCV000330477]\|not provided [RCV003437063]	benign\|likely benign	2	202565189	202565189	Human	1	name
11595274	CV287189	single nucleotide variant	NM_001204.7(BMPR2):c.*6879A>G	Pulmonary hypertension, primary, 1 [RCV000368942]	benign\|likely benign	2	202566825	202566825	Human	1	name
11590006	CV287192	single nucleotide variant	NM_001204.7(BMPR2):c.*7135A>G	Pulmonary hypertension, primary, 1 [RCV000315131]\|not provided [RCV004708479]	benign	2	202567081	202567081	Human	13	name
11660738	CV287193	deletion	NM_001204.7(BMPR2):c.*7162del	Pulmonary hypertension, primary, 1 [RCV000369683]	uncertain significance	2	202567107	202567107	Human	1	name
11582592	CV287194	single nucleotide variant	NM_001204.7(BMPR2):c.*7306A>G	Pulmonary hypertension, primary, 1 [RCV000261049]	benign\|likely benign	2	202567252	202567252	Human	1	name
405087416	CV2893130	single nucleotide variant	NM_001204.7(BMPR2):c.76+17G>A	Primary pulmonary hypertension [RCV003596795]	likely benign	2	202377567	202377567	Human	2	name
405059343	CV2945164	single nucleotide variant	NM_001204.7(BMPR2):c.247+8A>G	Primary pulmonary hypertension [RCV003762251]	likely benign	2	202464987	202464987	Human	2	name
405067332	CV3025038	single nucleotide variant	NM_001204.7(BMPR2):c.622-4G>T	Primary pulmonary hypertension [RCV003763354]	likely benign	2	202518818	202518818	Human	2	name
405071533	CV3046979	single nucleotide variant	NM_001204.7(BMPR2):c.853-6A>G	Primary pulmonary hypertension [RCV003763619]	likely benign	2	202520081	202520081	Human	2	name
596944480	CV3543215	single nucleotide variant	NM_001204.7(BMPR2):c.967+1G>T	Pulmonary hypertension [RCV004799087]	pathogenic	2	202520202	202520202	Human	1	name
597678870	CV3709821	single nucleotide variant	NM_001204.7(BMPR2):c.622-8A>T	Pulmonary hypertension, primary, 1 [RCV005030784]	uncertain significance	2	202518814	202518814	Human	1	name
597879424	CV3826249	single nucleotide variant	NM_001204.7(BMPR2):c.530-4A>C	Primary pulmonary hypertension [RCV005177945]	likely benign	2	202514884	202514884	Human	2	name
597846548	CV3827986	single nucleotide variant	NM_001204.7(BMPR2):c.853-8C>T	Primary pulmonary hypertension [RCV005173061]	likely benign	2	202520079	202520079	Human	2	name
597875647	CV3859796	single nucleotide variant	NM_001204.7(BMPR2):c.967+5G>A	Primary pulmonary hypertension [RCV005198203]	uncertain significance	2	202520206	202520206	Human	2	name
597917240	CV3861331	single nucleotide variant	NM_001204.7(BMPR2):c.77-14T>C	Primary pulmonary hypertension [RCV005204488]	likely benign	2	202464795	202464795	Human	2	name
598223263	CV3892179	single nucleotide variant	NM_001204.7(BMPR2):c.852+5G>A	Pulmonary hypertension, primary, 1 [RCV005253518]	uncertain significance	2	202519057	202519057	Human	1	name
12882149	CV392465	single nucleotide variant	NM_001204.7(BMPR2):c.968-5A>G	Primary pulmonary hypertension [RCV002230090]\|Pulmonary arterial hypertension [RCV004551530]\|Pulmonary hypertension, primary, 1 [RCV000459115]\|Pulmonary venoocclusive disease 1 [RCV001331819]\|not provided [RCV002221541]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	202530789	202530789	Human	5	name
12905239	CV414117	single nucleotide variant	NM_001204.7(BMPR2):c.247+1G>A	Pulmonary arterial hypertension [RCV001003655]\|Pulmonary hypertension, primary, 1 [RCV000488631]	pathogenic	2	202464980	202464980	Human	3	name
12905104	CV414119	deletion	NM_001204.7(BMPR2):c.247+2del	Pulmonary hypertension, primary, 1 [RCV000488456]	pathogenic	2	202464981	202464981	Human	1	name
12905247	CV414120	single nucleotide variant	NM_001204.7(BMPR2):c.247+6T>G	Primary pulmonary hypertension [RCV002528225]\|Pulmonary arterial hypertension [RCV004720261]\|Pulmonary hypertension, primary, 1 [RCV000488640]	pathogenic\|likely pathogenic\|uncertain significance	2	202464985	202464985	Human	4	name
12905234	CV414123	single nucleotide variant	NM_001204.7(BMPR2):c.248-3T>G	Pulmonary hypertension, primary, 1 [RCV000488624]	pathogenic	2	202467516	202467516	Human	1	name
12905360	CV414124	single nucleotide variant	NM_001204.7(BMPR2):c.248-2A>G	Primary pulmonary hypertension [RCV001376550]\|Pulmonary hypertension, primary, 1 [RCV000488795]	pathogenic\|likely pathogenic	2	202467517	202467517	Human	3	name
12905148	CV414125	single nucleotide variant	NM_001204.7(BMPR2):c.248-1G>A	BMPR2-related disorder [RCV005256619]\|Pulmonary hypertension, primary, 1 [RCV000488518]	pathogenic	2	202467518	202467518	Human	1	name , alternate_id
12905405	CV414162	single nucleotide variant	NM_001204.7(BMPR2):c.418+1G>C	Pulmonary hypertension, primary, 1 [RCV000488849]	pathogenic	2	202467690	202467690	Human	1	name
12905270	CV414164	single nucleotide variant	NM_001204.7(BMPR2):c.418+3A>T	Pulmonary hypertension, primary, 1 [RCV000488672]	pathogenic	2	202467692	202467692	Human	1	name
12905387	CV414165	single nucleotide variant	NM_001204.7(BMPR2):c.418+5G>A	Pulmonary arterial hypertension [RCV001003672]\|Pulmonary hypertension, primary, 1 [RCV000488829]	pathogenic\|likely pathogenic	2	202467694	202467694	Human	3	name
12905200	CV414177	single nucleotide variant	NM_001204.7(BMPR2):c.529+2T>C	Pulmonary arterial hypertension [RCV004551610]\|Pulmonary hypertension, primary, 1 [RCV000488578]	pathogenic\|uncertain significance	2	202513831	202513831	Human	3	name
12905290	CV414204	single nucleotide variant	NM_001204.7(BMPR2):c.852+1G>A	Primary pulmonary hypertension [RCV005090988]\|Pulmonary arterial hypertension [RCV001823913]\|Pulmonary hypertension, primary, 1 [RCV000488698]	pathogenic\|not provided	2	202519053	202519053	Human	4	name
12905359	CV414205	single nucleotide variant	NM_001204.7(BMPR2):c.852+1G>C	Pulmonary hypertension, primary, 1 [RCV000488794]	pathogenic	2	202519053	202519053	Human	1	name
12905269	CV414206	single nucleotide variant	NM_001204.7(BMPR2):c.853-1G>A	Pulmonary arterial hypertension [RCV001003697]\|Pulmonary arterial hypertension [RCV001823914]\|Pulmonary hypertension, primary, 1 [RCV000488671]	pathogenic\|likely pathogenic\|not provided	2	202520086	202520086	Human	3	name
12905406	CV414207	single nucleotide variant	NM_001204.7(BMPR2):c.853-1G>C	Pulmonary hypertension, primary, 1 [RCV000488850]	pathogenic	2	202520086	202520086	Human	1	name
12905272	CV414220	single nucleotide variant	NM_001204.7(BMPR2):c.967+2T>C	Pulmonary hypertension, primary, 1 [RCV000488675]	pathogenic	2	202520203	202520203	Human	1	name
12905369	CV414221	deletion	NM_001204.7(BMPR2):c.967+4del	Pulmonary arterial hypertension [RCV001003701]\|Pulmonary hypertension, primary, 1 [RCV000488807]	pathogenic	2	202520204	202520204	Human	3	name
12905173	CV414222	single nucleotide variant	NM_001204.7(BMPR2):c.967+5G>C	Pulmonary hypertension, primary, 1 [RCV000488546]	pathogenic	2	202520206	202520206	Human	1	name
12905277	CV414223	single nucleotide variant	NM_001204.7(BMPR2):c.967+5G>T	Pulmonary hypertension, primary, 1 [RCV000488682]	pathogenic	2	202520206	202520206	Human	1	name
12905201	CV414224	single nucleotide variant	NM_001204.7(BMPR2):c.968-3C>G	Pulmonary arterial hypertension [RCV004551611]\|Pulmonary hypertension, primary, 1 [RCV000488580]\|not provided [RCV001764466]	pathogenic\|uncertain significance	2	202530791	202530791	Human	3	name
12905301	CV414225	single nucleotide variant	NM_001204.7(BMPR2):c.968-2A>C	Pulmonary hypertension, primary, 1 [RCV000488713]	pathogenic	2	202530792	202530792	Human	1	name
12905393	CV414226	single nucleotide variant	NM_001204.7(BMPR2):c.968-1G>T	Pulmonary arterial hypertension [RCV001003702]\|Pulmonary hypertension, primary, 1 [RCV000488835]	pathogenic	2	202530793	202530793	Human	3	name
12905130	CV414286	deletion	NM_001204.6(BMPR2):c.1279delG	Pulmonary hypertension, primary, 1 [RCV000488496]	pathogenic	2	202542310	202542310	Human	1	name
13489771	CV450397	single nucleotide variant	NM_001204.7(BMPR2):c.621+1G>T	Primary pulmonary hypertension [RCV002231037]\|not provided [RCV004722877]	pathogenic\|likely pathogenic	2	202514980	202514980	Human	2	name
13704059	CV539170	single nucleotide variant	NM_001204.7(BMPR2):c.529+1G>A	Pulmonary arterial hypertension [RCV001823926]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664169]\|Pulmonary hypertension, primary, 1 [RCV002499140]	pathogenic\|likely pathogenic\|not provided	2	202513830	202513830	Human	3	name
21404710	CV801236	single nucleotide variant	NM_001204.7(BMPR2):c.418+1G>T	Pulmonary arterial hypertension [RCV001003671]	likely pathogenic	2	202467690	202467690	Human	2	name
21404714	CV801237	duplication	NM_001204.7(BMPR2):c.529+2dup	Pulmonary arterial hypertension [RCV001003676]	likely pathogenic	2	202513830	202513831	Human	2	name
21404719	CV801238	single nucleotide variant	NM_001204.7(BMPR2):c.621+1G>A	Pulmonary arterial hypertension [RCV001003680]	pathogenic	2	202514980	202514980	Human	2	name
21404721	CV801239	single nucleotide variant	NM_001204.7(BMPR2):c.621+1G>C	Pulmonary arterial hypertension [RCV001003681]	likely pathogenic	2	202514980	202514980	Human	2	name
21404722	CV801240	single nucleotide variant	NM_001204.7(BMPR2):c.622-1G>T	Pulmonary arterial hypertension [RCV001003682]	likely pathogenic	2	202518821	202518821	Human	2	name
28892035	CV883356	single nucleotide variant	NM_001204.7(BMPR2):c.-1029G>A	Pulmonary hypertension, primary, 1 [RCV001139645]	uncertain significance	2	202376446	202376446	Human	1	name
28892973	CV883392	single nucleotide variant	NM_001204.7(BMPR2):c.*1474T>C	Pulmonary hypertension, primary, 1 [RCV001139961]	uncertain significance	2	202561420	202561420	Human	1	name
28892976	CV883393	single nucleotide variant	NM_001204.7(BMPR2):c.*1499C>T	Pulmonary hypertension, primary, 1 [RCV001139962]	uncertain significance	2	202561445	202561445	Human	1	name
28892979	CV883394	single nucleotide variant	NM_001204.7(BMPR2):c.*1662T>G	Pulmonary hypertension, primary, 1 [RCV001139963]	uncertain significance	2	202561608	202561608	Human	1	name
28892983	CV883395	single nucleotide variant	NM_001204.7(BMPR2):c.*1971C>T	Pulmonary hypertension, primary, 1 [RCV001139964]	benign	2	202561917	202561917	Human	1	name
28895012	CV883396	single nucleotide variant	NM_001204.7(BMPR2):c.*2144G>T	Pulmonary hypertension, primary, 1 [RCV001140718]	uncertain significance	2	202562090	202562090	Human	1	name
28895019	CV883397	single nucleotide variant	NM_001204.7(BMPR2):c.*2315G>A	Pulmonary hypertension, primary, 1 [RCV001140719]	uncertain significance	2	202562261	202562261	Human	1	name
28895021	CV883398	single nucleotide variant	NM_001204.7(BMPR2):c.*2350A>G	Pulmonary hypertension, primary, 1 [RCV001140720]	uncertain significance	2	202562296	202562296	Human	1	name
28899991	CV883399	single nucleotide variant	NM_001204.7(BMPR2):c.*2963T>C	Pulmonary hypertension, primary, 1 [RCV001142586]	uncertain significance	2	202562909	202562909	Human	1	name
28899995	CV883400	single nucleotide variant	NM_001204.7(BMPR2):c.*2994A>T	Pulmonary hypertension, primary, 1 [RCV001142587]	uncertain significance	2	202562940	202562940	Human	1	name
28899999	CV883401	single nucleotide variant	NM_001204.7(BMPR2):c.*3017C>T	Pulmonary hypertension, primary, 1 [RCV001142588]	uncertain significance	2	202562963	202562963	Human	1	name
28886538	CV883402	single nucleotide variant	NM_001204.7(BMPR2):c.*3364G>A	Pulmonary hypertension, primary, 1 [RCV001137838]	uncertain significance	2	202563310	202563310	Human	1	name
28886542	CV883403	single nucleotide variant	NM_001204.7(BMPR2):c.*3415C>T	Pulmonary hypertension, primary, 1 [RCV001137839]	uncertain significance	2	202563361	202563361	Human	1	name
28886545	CV883404	single nucleotide variant	NM_001204.7(BMPR2):c.*3646A>T	Pulmonary hypertension, primary, 1 [RCV001137840]	uncertain significance	2	202563592	202563592	Human	1	name
28893305	CV883405	single nucleotide variant	NM_001204.7(BMPR2):c.*4205G>A	Pulmonary hypertension, primary, 1 [RCV001140081]	uncertain significance	2	202564151	202564151	Human	1	name
28893308	CV883406	single nucleotide variant	NM_001204.7(BMPR2):c.*4706T>G	Pulmonary hypertension, primary, 1 [RCV001140082]	uncertain significance	2	202564652	202564652	Human	1	name
28893311	CV883407	single nucleotide variant	NM_001204.7(BMPR2):c.*4903A>C	Pulmonary hypertension, primary, 1 [RCV001140083]	benign	2	202564849	202564849	Human	1	name
28893315	CV883408	single nucleotide variant	NM_001204.7(BMPR2):c.*5025G>T	Pulmonary hypertension, primary, 1 [RCV001140084]	uncertain significance	2	202564971	202564971	Human	1	name
28895371	CV883409	single nucleotide variant	NM_001204.7(BMPR2):c.*5127C>T	Pulmonary hypertension, primary, 1 [RCV001140847]	benign	2	202565073	202565073	Human	1	name
28900258	CV883410	single nucleotide variant	NM_001204.7(BMPR2):c.*5252A>G	Pulmonary hypertension, primary, 1 [RCV001142694]\|Pulmonary hypertension, primary, 1 [RCV002480530]	uncertain significance	2	202565198	202565198	Human	1	name
28900262	CV883411	single nucleotide variant	NM_001204.7(BMPR2):c.*5535G>A	Pulmonary hypertension, primary, 1 [RCV001142695]\|Pulmonary hypertension, primary, 1 [RCV002497557]	uncertain significance	2	202565481	202565481	Human	1	name
28886912	CV883412	single nucleotide variant	NM_001204.7(BMPR2):c.*5808C>T	Pulmonary hypertension, primary, 1 [RCV001137950]	uncertain significance	2	202565754	202565754	Human	1	name
28886917	CV883413	single nucleotide variant	NM_001204.7(BMPR2):c.*5914A>G	Pulmonary hypertension, primary, 1 [RCV001137951]	uncertain significance	2	202565860	202565860	Human	1	name
28886923	CV883414	single nucleotide variant	NM_001204.7(BMPR2):c.*5990A>C	Pulmonary hypertension, primary, 1 [RCV001137952]	uncertain significance	2	202565936	202565936	Human	1	name
28886927	CV883415	single nucleotide variant	NM_001204.7(BMPR2):c.*6142T>A	Pulmonary hypertension, primary, 1 [RCV001137953]	uncertain significance	2	202566088	202566088	Human	1	name
28888372	CV883416	single nucleotide variant	NM_001204.7(BMPR2):c.*6354C>A	Pulmonary hypertension, primary, 1 [RCV001138364]	benign	2	202566300	202566300	Human	1	name
28888376	CV883417	single nucleotide variant	NM_001204.7(BMPR2):c.*6362G>T	Pulmonary hypertension, primary, 1 [RCV001138365]	uncertain significance	2	202566308	202566308	Human	1	name
28888381	CV883418	single nucleotide variant	NM_001204.7(BMPR2):c.*6576T>C	Pulmonary hypertension, primary, 1 [RCV001138366]	uncertain significance	2	202566522	202566522	Human	1	name
28888385	CV883419	single nucleotide variant	NM_001204.7(BMPR2):c.*6683G>A	Pulmonary hypertension, primary, 1 [RCV001138367]	uncertain significance	2	202566629	202566629	Human	1	name
28888390	CV883420	single nucleotide variant	NM_001204.7(BMPR2):c.*6731G>A	Pulmonary hypertension, primary, 1 [RCV001138368]\|Pulmonary hypertension, primary, 1 [RCV002505712]	uncertain significance	2	202566677	202566677	Human	1	name
28895640	CV883421	single nucleotide variant	NM_001204.7(BMPR2):c.*6820T>C	Pulmonary hypertension, primary, 1 [RCV001140952]	uncertain significance	2	202566766	202566766	Human	1	name
28895643	CV883422	single nucleotide variant	NM_001204.7(BMPR2):c.*7097A>C	Pulmonary hypertension, primary, 1 [RCV001140953]	uncertain significance	2	202567043	202567043	Human	1	name
28895645	CV883423	single nucleotide variant	NM_001204.7(BMPR2):c.*7273G>A	Pulmonary hypertension, primary, 1 [RCV001140954]\|Pulmonary hypertension, primary, 1 [RCV002480524]	uncertain significance	2	202567219	202567219	Human	1	name
28895648	CV883424	single nucleotide variant	NM_001204.7(BMPR2):c.*7388C>T	Pulmonary hypertension, primary, 1 [RCV001140955]	benign	2	202567334	202567334	Human	1	name
28900477	CV883425	single nucleotide variant	NM_001204.7(BMPR2):c.*7419G>C	Pulmonary hypertension, primary, 1 [RCV001142795]	uncertain significance	2	202567365	202567365	Human	1	name
28900480	CV883426	single nucleotide variant	NM_001204.7(BMPR2):c.*7463T>A	Pulmonary hypertension, primary, 1 [RCV001142796]	uncertain significance	2	202567409	202567409	Human	1	name
28892334	CV887242	single nucleotide variant	NM_001204.7(BMPR2):c.248-3T>C	Primary pulmonary hypertension [RCV005093623]\|Pulmonary hypertension, primary, 1 [RCV001139730]\|not provided [RCV005232132]	benign\|likely benign\|uncertain significance	2	202467516	202467516	Human	3	name
126735509	CV1019536	single nucleotide variant	NM_001204.7(BMPR2):c.1587-1G>A	Primary pulmonary hypertension 1 [RCV001334872]	pathogenic	2	202555251	202555251	Human		name
150428858	CV1186363	single nucleotide variant	NM_001204.7(BMPR2):c.852+63A>T	not provided [RCV001562818]	likely benign	2	202519115	202519115	Human		name
150437756	CV1201304	single nucleotide variant	NM_001204.7(BMPR2):c.852+88T>C	not provided [RCV001583116]	likely benign	2	202519140	202519140	Human		name
150475929	CV1216737	single nucleotide variant	NM_001204.7(BMPR2):c.418+55A>G	not provided [RCV001616030]	benign	2	202467744	202467744	Human		name
150483430	CV1247619	single nucleotide variant	NM_001204.7(BMPR2):c.418+82G>A	not provided [RCV001673445]	benign	2	202467771	202467771	Human		name
150469727	CV1259707	single nucleotide variant	NM_001204.7(BMPR2):c.853-98C>G	not provided [RCV001684008]	benign	2	202519989	202519989	Human		name
150462566	CV1273028	single nucleotide variant	NM_001204.7(BMPR2):c.529+64C>T	not provided [RCV001693785]	benign	2	202513893	202513893	Human		name
150484532	CV1280492	duplication	NM_001204.7(BMPR2):c.853-22dup	not provided [RCV001715401]	benign	2	202520053	202520054	Human		name
152035596	CV1670172	single nucleotide variant	NM_001204.7(BMPR2):c.967+17A>C	not provided [RCV002223706]	uncertain significance	2	202520218	202520218	Human		name
155267593	CV1704993	single nucleotide variant	NM_001204.7(BMPR2):c.419-38T>A	not provided [RCV002285598]	likely benign	2	202513681	202513681	Human		name
156402010	CV1908059	single nucleotide variant	NM_001204.7(BMPR2):c.2866+7G>A	Primary pulmonary hypertension [RCV002584983]	likely benign	2	202556538	202556538	Human	2	name
155975422	CV2079477	single nucleotide variant	NM_001204.7(BMPR2):c.1129-2A>T	Primary pulmonary hypertension [RCV002881681]	likely pathogenic	2	202532583	202532583	Human	2	name
10410147	CV209589	single nucleotide variant	NM_001204.7(BMPR2):c.1128+1G>A	Primary pulmonary hypertension [RCV002229023]\|Pulmonary arterial hypertension [RCV001823877]\|Pulmonary hypertension, primary, 1 [RCV000323481]\|not provided [RCV000197596]	pathogenic\|likely pathogenic\|not provided	2	202530955	202530955	Human	4	name
11544390	CV250508	single nucleotide variant	NM_001204.7(BMPR2):c.621+37C>G	not provided [RCV001558758]\|not specified [RCV000243728]	benign\|likely benign	2	202515016	202515016	Human		name
11548141	CV250509	duplication	NM_001204.7(BMPR2):c.853-21dup	not provided [RCV001786349]\|not specified [RCV000248700]	likely benign	2	202520065	202520066	Human		name
11578091	CV264060	single nucleotide variant	NM_001204.7(BMPR2):c.1128+1G>C	Primary pulmonary hypertension [RCV002229735]\|Pulmonary arterial hypertension [RCV001823884]\|not provided [RCV000273960]	pathogenic\|not provided	2	202530955	202530955	Human	3	name
11580276	CV284798	single nucleotide variant	NM_001204.7(BMPR2):c.1414-3C>T	Primary pulmonary hypertension [RCV001507192]\|Pulmonary hypertension, primary, 1 [RCV000328462]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	202552713	202552713	Human	3	name
405083690	CV2857924	single nucleotide variant	NM_001204.7(BMPR2):c.1277-1G>A	Primary pulmonary hypertension [RCV003596296]	pathogenic	2	202542310	202542310	Human	2	name
405085313	CV2876105	single nucleotide variant	NM_001204.7(BMPR2):c.530-14T>C	Primary pulmonary hypertension [RCV003596435]	benign	2	202514874	202514874	Human	2	name
405088370	CV2883410	single nucleotide variant	NM_001204.7(BMPR2):c.248-20G>C	Primary pulmonary hypertension [RCV003596811]	likely benign	2	202467499	202467499	Human	2	name
405088114	CV2887290	single nucleotide variant	NM_001204.7(BMPR2):c.530-13C>A	Primary pulmonary hypertension [RCV003596827]\|Pulmonary hypertension, primary, 1 [RCV005030105]	likely benign\|uncertain significance	2	202514875	202514875	Human	3	name
405092523	CV2927762	single nucleotide variant	NM_001204.7(BMPR2):c.1277-4A>G	Primary pulmonary hypertension [RCV003597183]	likely benign	2	202542307	202542307	Human	2	name
405059116	CV2953057	duplication	NM_001204.7(BMPR2):c.529+10dup	Primary pulmonary hypertension [RCV003762283]	likely benign	2	202513838	202513839	Human	2	name
405067094	CV3010330	single nucleotide variant	NM_001204.7(BMPR2):c.967+13A>G	Primary pulmonary hypertension [RCV003763313]	likely benign	2	202520214	202520214	Human	2	name
405075173	CV3070752	single nucleotide variant	NM_001204.7(BMPR2):c.418+19T>A	Primary pulmonary hypertension [RCV003764381]	likely benign	2	202467708	202467708	Human	2	name
405192291	CV3118137	single nucleotide variant	NM_001204.7(BMPR2):c.419-14T>C	Primary pulmonary hypertension [RCV003821047]	likely benign	2	202513705	202513705	Human	2	name
405184169	CV3124070	single nucleotide variant	NM_001204.7(BMPR2):c.418+13A>C	Primary pulmonary hypertension [RCV003820266]	likely benign	2	202467702	202467702	Human	2	name
405146032	CV3151999	duplication	NM_001204.7(BMPR2):c.853-12dup	Primary pulmonary hypertension [RCV003855970]	benign	2	202520069	202520070	Human	2	name
596928512	CV3541518	single nucleotide variant	NM_001204.7(BMPR2):c.2867-3C>G	Pulmonary hypertension, primary, 1 [RCV004797390]	uncertain significance	2	202559693	202559693	Human	1	name
597678986	CV3709832	single nucleotide variant	NM_001204.7(BMPR2):c.1128+4A>C	Pulmonary hypertension, primary, 1 [RCV005030796]	uncertain significance	2	202530958	202530958	Human	1	name
597856438	CV3758793	single nucleotide variant	NM_001204.7(BMPR2):c.419-13T>C	Primary pulmonary hypertension [RCV005088753]	likely benign	2	202513706	202513706	Human	2	name
597907656	CV3781539	single nucleotide variant	NM_001204.7(BMPR2):c.1129-9A>G	Primary pulmonary hypertension [RCV005128227]	uncertain significance	2	202532576	202532576	Human	2	name
597927148	CV3783216	single nucleotide variant	NM_001204.7(BMPR2):c.419-17A>C	Primary pulmonary hypertension [RCV005115902]	likely benign	2	202513702	202513702	Human	2	name
597973599	CV3820569	single nucleotide variant	NM_001204.7(BMPR2):c.248-12A>G	Primary pulmonary hypertension [RCV005168086]	likely benign	2	202467507	202467507	Human	2	name
597874695	CV3846326	single nucleotide variant	NM_001204.7(BMPR2):c.530-19C>T	Primary pulmonary hypertension [RCV005177209]	likely benign	2	202514869	202514869	Human	2	name
597875133	CV3846445	single nucleotide variant	NM_001204.7(BMPR2):c.419-12G>T	Primary pulmonary hypertension [RCV005177328]	likely benign	2	202513707	202513707	Human	2	name
597933693	CV3863323	single nucleotide variant	NM_001204.7(BMPR2):c.853-20G>A	Primary pulmonary hypertension [RCV005206849]	likely benign	2	202520067	202520067	Human	2	name
12905319	CV414167	single nucleotide variant	NM_001204.7(BMPR2):c.419-10T>C	Pulmonary hypertension, primary, 1 [RCV000488737]	pathogenic	2	202513709	202513709	Human	1	name
12905257	CV414246	single nucleotide variant	NM_001204.7(BMPR2):c.1128+1G>T	Pulmonary hypertension, primary, 1 [RCV000488653]	pathogenic	2	202530955	202530955	Human	1	name
12905320	CV414247	single nucleotide variant	NM_001204.7(BMPR2):c.1129-3C>G	Primary pulmonary hypertension [RCV002231122]\|Pulmonary hypertension, primary, 1 [RCV000488739]	pathogenic	2	202532582	202532582	Human	3	name
12905284	CV414278	single nucleotide variant	NM_001204.7(BMPR2):c.1276+1G>A	Primary pulmonary hypertension [RCV005090990]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664166]\|Pulmonary hypertension, primary, 1 [RCV000488690]	pathogenic\|likely pathogenic	2	202532733	202532733	Human	4	name
12905407	CV414279	single nucleotide variant	NM_001204.7(BMPR2):c.1276+3A>G	Primary pulmonary hypertension [RCV005090991]\|Pulmonary arterial hypertension [RCV005411451]\|Pulmonary hypertension, primary, 1 [RCV000488854]	pathogenic\|likely pathogenic\|uncertain significance	2	202532735	202532735	Human	4	name
12905182	CV414280	single nucleotide variant	NM_001204.7(BMPR2):c.1276+3A>T	Pulmonary arterial hypertension [RCV005411452]\|Pulmonary hypertension, primary, 1 [RCV000488558]	pathogenic\|likely pathogenic	2	202532735	202532735	Human	3	name
12905327	CV414281	single nucleotide variant	NM_001204.7(BMPR2):c.1276+4A>G	Pulmonary arterial hypertension [RCV005411453]\|Pulmonary hypertension, primary, 1 [RCV000488749]	pathogenic\|likely pathogenic	2	202532736	202532736	Human	3	name
12905210	CV414283	single nucleotide variant	NM_001204.7(BMPR2):c.1277-9A>C	Pulmonary arterial hypertension [RCV005411454]\|Pulmonary hypertension, primary, 1 [RCV000488592]	pathogenic\|uncertain significance	2	202542302	202542302	Human	3	name
12905314	CV414284	single nucleotide variant	NM_001204.7(BMPR2):c.1277-9A>G	Pulmonary arterial hypertension [RCV005411455]\|Pulmonary hypertension, primary, 1 [RCV000488730]	pathogenic	2	202542302	202542302	Human	3	name
12905127	CV414285	single nucleotide variant	NM_001204.7(BMPR2):c.1277-8A>G	Pulmonary hypertension, primary, 1 [RCV000488492]	pathogenic	2	202542303	202542303	Human	1	name
12905342	CV414303	single nucleotide variant	NM_001204.7(BMPR2):c.1413+1G>A	Pulmonary arterial hypertension [RCV001003721]\|Pulmonary arterial hypertension [RCV001823917]\|Pulmonary hypertension, primary, 1 [RCV000488765]	pathogenic\|not provided	2	202542448	202542448	Human	3	name
12905116	CV414304	single nucleotide variant	NM_001204.7(BMPR2):c.1413+3A>T	Pulmonary hypertension, primary, 1 [RCV000488474]	pathogenic	2	202542450	202542450	Human	1	name
12905261	CV414305	single nucleotide variant	NM_001204.7(BMPR2):c.1414-2A>T	Primary pulmonary hypertension [RCV002528226]\|Pulmonary hypertension, primary, 1 [RCV000488660]	pathogenic	2	202552714	202552714	Human	3	name
12905221	CV414372	deletion	NM_001204.6(BMPR2):c.51_814del	Pulmonary hypertension, primary, 1 [RCV000488607]	pathogenic	2	202377525	202519014	Human	1	name
13704057	CV539169	deletion	NM_001204.7(BMPR2):c.419-38del	Primary pulmonary hypertension [RCV001515295]\|Pulmonary arterial hypertension [RCV004547834]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664168]\|not provided [RCV001550415]	benign\|likely benign\|uncertain significance	2	202513676	202513676	Human	3	name
21406031	CV799276	single nucleotide variant	NM_001204.7(BMPR2):c.622-35A>T	not provided [RCV004709017]\|not specified [RCV001001772]	benign	2	202518787	202518787	Human		name
21404747	CV801242	single nucleotide variant	NM_001204.7(BMPR2):c.1128+2T>G	Pulmonary arterial hypertension [RCV001003707]	pathogenic	2	202530956	202530956	Human	2	name
21404758	CV801243	single nucleotide variant	NM_001204.7(BMPR2):c.1277-2A>G	Primary pulmonary hypertension [RCV002549221]\|Pulmonary arterial hypertension [RCV001003717]	pathogenic\|likely pathogenic	2	202542309	202542309	Human	3	name
127265499	CV1090601	single nucleotide variant	NM_001204.7(BMPR2):c.1129-10A>T	Primary pulmonary hypertension [RCV001439974]	likely benign	2	202532575	202532575	Human	2	name
127329869	CV1133037	single nucleotide variant	NM_001204.7(BMPR2):c.1276+10A>G	Primary pulmonary hypertension [RCV001487730]	likely benign	2	202532742	202532742	Human	2	name
150412576	CV1196804	single nucleotide variant	NM_001204.7(BMPR2):c.621+103C>G	not provided [RCV001574386]	likely benign	2	202515082	202515082	Human		name
150453648	CV1219863	single nucleotide variant	NM_001204.7(BMPR2):c.530-221G>A	not provided [RCV001612244]	benign	2	202514667	202514667	Human		name
150433026	CV1231643	single nucleotide variant	NM_001204.7(BMPR2):c.418+212A>C	not provided [RCV001643305]	benign	2	202467901	202467901	Human		name
153002384	CV1685503	duplication	NM_001204.7(BMPR2):c.1414-37dup	not provided [RCV002259490]	likely benign	2	202552668	202552669	Human		name
156129775	CV1966158	single nucleotide variant	NM_001204.7(BMPR2):c.1129-16C>A	Primary pulmonary hypertension [RCV002593449]	likely benign	2	202532569	202532569	Human	2	name
156388316	CV1995990	deletion	NM_001204.7(BMPR2):c.1129-19del	Primary pulmonary hypertension [RCV002654158]	likely benign	2	202532566	202532566	Human	2	name
11660635	CV284776	microsatellite	NM_001204.7(BMPR2):c.-927AGC[4]	Pulmonary hypertension, primary, 1 [RCV000368986]	likely benign	2	202376545	202376546	Human		name
405086596	CV2879249	deletion	NM_001204.7(BMPR2):c.2866+14del	Primary pulmonary hypertension [RCV003596415]	likely benign	2	202556545	202556545	Human	2	name
405088254	CV2897911	single nucleotide variant	NM_001204.7(BMPR2):c.2867-16G>A	Primary pulmonary hypertension [RCV003596838]	likely benign	2	202559680	202559680	Human	2	name
405090667	CV2920007	single nucleotide variant	NM_001204.7(BMPR2):c.1276+16A>C	Primary pulmonary hypertension [RCV003597004]	likely benign	2	202532748	202532748	Human	2	name
405072587	CV3051305	single nucleotide variant	NM_001204.7(BMPR2):c.1276+14T>G	Primary pulmonary hypertension [RCV003763683]	likely benign	2	202532746	202532746	Human	2	name
405074977	CV3070483	single nucleotide variant	NM_001204.7(BMPR2):c.1128+12C>T	Primary pulmonary hypertension [RCV003764368]	likely benign	2	202530966	202530966	Human	2	name
405076772	CV3077733	single nucleotide variant	NM_001204.7(BMPR2):c.1414-14A>G	Primary pulmonary hypertension [RCV003764442]	likely pathogenic\|benign	2	202552702	202552702	Human	2	name
402489974	CV3182258	deletion	NM_001204.7(BMPR2):c.1587-12del	Primary pulmonary hypertension [RCV003876744]	benign	2	202555234	202555234	Human	2	name
405286062	CV3209843	microsatellite	NM_001204.7(BMPR2):c.-963GGC[8]	BMPR2-related disorder [RCV004552857]	likely benign	2	202376512	202376523	Human		name , trait , alternate_id
405293726	CV3214483	microsatellite	NM_001204.7(BMPR2):c.-963GGC[9]	BMPR2-related disorder [RCV004551042]	benign	2	202376512	202376520	Human		name , trait , alternate_id
407502298	CV3495665	single nucleotide variant	NM_001204.7(BMPR2):c.1129-14C>G	not provided [RCV004697505]	uncertain significance	2	202532571	202532571	Human		name
597929302	CV3816173	single nucleotide variant	NM_001204.7(BMPR2):c.1587-15T>C	Primary pulmonary hypertension [RCV005156754]	likely benign	2	202555237	202555237	Human	2	name
597973810	CV3820596	single nucleotide variant	NM_001204.7(BMPR2):c.2866+17T>C	Primary pulmonary hypertension [RCV005168113]	likely benign	2	202556548	202556548	Human	2	name
597928049	CV3836975	single nucleotide variant	NM_001204.7(BMPR2):c.1587-18T>C	Primary pulmonary hypertension [RCV005185326]	likely benign	2	202555234	202555234	Human	2	name
597944143	CV3847696	single nucleotide variant	NM_001204.7(BMPR2):c.2867-13C>T	Primary pulmonary hypertension [RCV005188424]	likely benign	2	202559683	202559683	Human	2	name
14736040	CV658846	single nucleotide variant	NM_001204.7(BMPR2):c.247+248A>G	not provided [RCV000838286]	benign	2	202465227	202465227	Human		name
15183187	CV774683	single nucleotide variant	NM_001204.7(BMPR2):c.1413+10A>T	Primary pulmonary hypertension [RCV001424302]	likely benign	2	202542457	202542457	Human	2	name
150490019	CV1208543	deletion	NM_001204.7(BMPR2):c.1277-189del	not provided [RCV001592404]	likely benign	2	202542110	202542110	Human		name
150514458	CV1212018	single nucleotide variant	NM_001204.7(BMPR2):c.1413+318C>T	not provided [RCV001599087]	benign	2	202542765	202542765	Human		name
150517300	CV1226748	microsatellite	NM_001204.7(BMPR2):c.-963GGC[15]	not provided [RCV001639842]	benign	2	202376511	202376512	Human		name
150453088	CV1231784	single nucleotide variant	NM_001204.7(BMPR2):c.2866+228C>T	not provided [RCV001648091]	benign	2	202556759	202556759	Human		name
150474468	CV1234455	single nucleotide variant	NM_001204.7(BMPR2):c.1277-179A>C	not provided [RCV001651775]	benign	2	202542132	202542132	Human		name
150491490	CV1239287	single nucleotide variant	NM_001204.7(BMPR2):c.2866+189G>C	not provided [RCV001654855]	benign	2	202556720	202556720	Human		name
150469090	CV1259599	single nucleotide variant	NM_001204.7(BMPR2):c.1586+290A>G	not provided [RCV001683900]	benign	2	202553178	202553178	Human		name
150448265	CV1270436	single nucleotide variant	NM_001204.7(BMPR2):c.1586+172T>A	not provided [RCV001691573]	benign	2	202553060	202553060	Human		name
150478454	CV1271061	single nucleotide variant	NM_001204.7(BMPR2):c.1129-236G>T	not provided [RCV001696497]	benign	2	202532349	202532349	Human		name
150496388	CV1272881	single nucleotide variant	NM_001204.7(BMPR2):c.1277-295C>T	not provided [RCV001688804]	benign	2	202542016	202542016	Human		name
155268737	CV1705564	microsatellite	NM_001204.7(BMPR2):c.-963GGC[14]	not provided [RCV002286171]	likely benign	2	202376511	202376512	Human		name
8560716	CV23846	indel	BMPR2, 2-BP DEL, 1-BP INS, NT690	Pulmonary hypertension, primary, 1 [RCV000009352]	pathogenic				Human		name
401930041	CV2819501	microsatellite	NM_001204.7(BMPR2):c.-963GGC[16]	not provided [RCV003440134]	benign	2	202376511	202376512	Human		name
11663794	CV284756	microsatellite	NM_001204.7(BMPR2):c.-963GGC[11]	Pulmonary hypertension, primary, 1 [RCV000399637]	uncertain significance	2	202376512	202376514	Human		name
11635450	CV286646	microsatellite	NM_001204.7(BMPR2):c.-963GGC[13]	Pulmonary hypertension, primary, 1 [RCV000351561]\|not provided [RCV001711945]	benign\|likely benign	2	202376511	202376512	Human		name
12905110	CV414085	deletion	NM_001204.7(BMPR2):c.77-35_86del	Pulmonary hypertension, primary, 1 [RCV000488465]	pathogenic	2	202464773	202464817	Human	1	name
14729942	CV658748	single nucleotide variant	NM_001204.7(BMPR2):c.1587-116A>G	not provided [RCV000835449]	benign	2	202555136	202555136	Human		name
21404708	CV801235	deletion	NM_001204.7(BMPR2):c.417_418+2del	Pulmonary arterial hypertension [RCV001003670]	likely pathogenic	2	202467687	202467690	Human	2	name
12886953	CV391465	deletion	NM_001204.6(BMPR2):c.77-?_418+?del	Pulmonary hypertension, primary, 1 [RCV000468189]	pathogenic	2	202464809	202467689	Human	1	name
12905060	CV414046	duplication	NM_001204.6(BMPR2):c.77-?_247+?dup	Pulmonary hypertension, primary, 1 [RCV000488488]	pathogenic				Human	1	name
12905076	CV414047	duplication	NM_001204.6(BMPR2):c.77-?_418+?dup	Pulmonary hypertension, primary, 1 [RCV000488797]	pathogenic				Human	1	name
12905062	CV414048	deletion	NM_001204.6(BMPR2):c.77-?_621+?del	Pulmonary hypertension, primary, 1 [RCV000488548]	pathogenic				Human	1	name
12905069	CV414049	duplication	NM_001204.6(BMPR2):c.77-?_967+?dup	Pulmonary hypertension, primary, 1 [RCV000488677]	pathogenic				Human	1	name
21404739	CV801241	insertion	NM_001204.7(BMPR2):c.852_852+1insA	Pulmonary arterial hypertension [RCV001003695]	pathogenic	2	202519052	202519053	Human	2	name
11593829	CV284840	deletion	NM_001204.7(BMPR2):c.3823_3825del	Pulmonary hypertension, primary, 1 [RCV000352297]	benign	2	202563767	202563769	Human	1	name
11661494	CV287160	deletion	NM_001204.7(BMPR2):c.1268_1269del	Pulmonary hypertension, primary, 1 [RCV000377150]	uncertain significance	2	202561214	202561215	Human	1	name
11647974	CV287182	deletion	NM_001204.7(BMPR2):c.4034_4037del	Pulmonary hypertension, primary, 1 [RCV000279546]	uncertain significance	2	202563978	202563981	Human	1	name
12905077	CV414050	deletion	NM_001204.6(BMPR2):c.77-?_1276+?del	Pulmonary hypertension, primary, 1 [RCV000488798]	pathogenic				Human	1	name
12905070	CV414051	deletion	NM_001204.6(BMPR2):c.248-?_418+?del	Pulmonary hypertension, primary, 1 [RCV000488681]	pathogenic				Human	1	name
12905081	CV414052	duplication	NM_001204.6(BMPR2):c.248-?_418+?dup	Pulmonary hypertension, primary, 1 [RCV000488858]	pathogenic				Human	1	name
12905061	CV414053	deletion	NM_001204.6(BMPR2):c.419-?_529+?del	Pulmonary hypertension, primary, 1 [RCV000488499]	pathogenic				Human	1	name
12905064	CV414054	deletion	NM_001204.6(BMPR2):c.419-?_621+?del	Pulmonary hypertension, primary, 1 [RCV000488585]	pathogenic				Human	1	name
12905073	CV414055	deletion	NM_001204.6(BMPR2):c.419-?_967+?del	Pulmonary hypertension, primary, 1 [RCV000488771]	pathogenic				Human	1	name
12905072	CV414058	deletion	NM_001204.6(BMPR2):c.530-?_621+?del	Pulmonary hypertension, primary, 1 [RCV000488767]	pathogenic				Human	1	name
12905079	CV414059	deletion	NM_001204.6(BMPR2):c.530-?_967+?del	Pulmonary hypertension, primary, 1 [RCV000488836]	pathogenic				Human	1	name
12905058	CV414060	deletion	NM_001204.6(BMPR2):c.622-?_852+?del	Pulmonary hypertension, primary, 1 [RCV000488459]	pathogenic				Human	1	name
12905067	CV414061	deletion	NM_001204.6(BMPR2):c.622-?_967+?del	Pulmonary hypertension, primary, 1 [RCV000488644]	pathogenic				Human	1	name
12905063	CV414062	duplication	NM_001204.6(BMPR2):c.853-?_967+?dup	Pulmonary hypertension, primary, 1 [RCV000488568]	pathogenic				Human	1	name
12905343	CV414118	deletion	NM_001204.7(BMPR2):c.247+1_247+7del	Pulmonary arterial hypertension [RCV004551609]\|Pulmonary hypertension, primary, 1 [RCV000488766]	pathogenic\|uncertain significance	2	202464979	202464985	Human	3	name
12905220	CV414166	microsatellite	NM_001204.7(BMPR2):c.418+5_418+8del	Pulmonary hypertension, primary, 1 [RCV000488606]	pathogenic	2	202467689	202467692	Human		name
12905134	CV414431	duplication	NM_001204.7(BMPR2):c.1129-1_1129dup	Pulmonary hypertension, primary, 1 [RCV000488501]	pathogenic	2	202532583	202532584	Human	1	name
15116833	CV683472	single nucleotide variant	NM_001204.7(BMPR2):c.9C>A (p.Ser3=)	Inborn genetic diseases [RCV004601297]\|Primary pulmonary hypertension [RCV001507146]\|Pulmonary hypertension, primary, 1 [RCV000861014]\|not provided [RCV001811510]	benign\|likely benign	2	202377483	202377483	Human	4	name
151754699	CV1449147	indel	NM_001204.7(BMPR2):c.77-1_77delinsAA	Primary pulmonary hypertension [RCV001986636]	likely pathogenic	2	202464808	202464809	Human		name
11351373	CV238597	deletion	NM_001204.7(BMPR2):c.1125_1128+16del	Primary pulmonary hypertension [RCV001380225]\|Pulmonary hypertension, primary, 1 [RCV000226914]	pathogenic\|likely pathogenic	2	202530951	202530970	Human	3	name
598250243	CV3946156	single nucleotide variant	NM_001204.7(BMPR2):c.12G>T (p.Ser4=)	Inborn genetic diseases [RCV005298309]	likely benign	2	202377486	202377486	Human	1	name
598162503	CV3946168	single nucleotide variant	NM_001204.7(BMPR2):c.21G>A (p.Arg7=)	Inborn genetic diseases [RCV005307238]	likely benign	2	202377495	202377495	Human	1	name
12905059	CV414056	duplication	NM_001204.6(BMPR2):c.419-?_1128+?dup	Pulmonary hypertension, primary, 1 [RCV000488471]	pathogenic				Human	1	name
12905068	CV414057	deletion	NM_001204.6(BMPR2):c.419-?_1413+?del	Pulmonary hypertension, primary, 1 [RCV000488656]	pathogenic				Human	1	name
12905065	CV414063	deletion	NM_001204.6(BMPR2):c.968-?_1128+?del	Pulmonary hypertension, primary, 1 [RCV000488610]	pathogenic				Human	1	name
12905071	CV414064	deletion	NM_001204.6(BMPR2):c.968-?_1276+?del	Pulmonary hypertension, primary, 1 [RCV000488724]	pathogenic				Human	1	name
12905080	CV414065	duplication	NM_001204.6(BMPR2):c.968-?_1413+?dup	Pulmonary hypertension, primary, 1 [RCV000488838]	pathogenic				Human	1	name
12905253	CV414071	duplication	NM_001204.7(BMPR2):c.9dup (p.Ser4fs)	Pulmonary hypertension, primary, 1 [RCV000488648]	pathogenic	2	202377481	202377482	Human	1	name
127233740	CV1068936	single nucleotide variant	NM_001204.7(BMPR2):c.45A>G (p.Pro15=)	Primary pulmonary hypertension [RCV001414018]	likely benign	2	202377519	202377519	Human	2	name
150337061	CV1170876	duplication	NM_001204.7(BMPR2):c.853-23_853-22dup	not provided [RCV001541382]	benign	2	202520053	202520054	Human		name
152045980	CV1591158	single nucleotide variant	NM_001204.7(BMPR2):c.33G>A (p.Val11=)	Primary pulmonary hypertension [RCV002188832]	likely benign	2	202377507	202377507	Human	2	name
156047143	CV2186519	single nucleotide variant	NM_001204.7(BMPR2):c.99A>T (p.Leu33=)	Primary pulmonary hypertension [RCV003036782]	likely benign	2	202464831	202464831	Human	2	name
597637101	CV3643075	single nucleotide variant	NM_001204.7(BMPR2):c.84G>A (p.Gln28=)	Inborn genetic diseases [RCV004970083]	likely benign	2	202464816	202464816	Human	1	name
597678780	CV3709813	single nucleotide variant	NM_001204.7(BMPR2):c.5C>G (p.Thr2Ser)	Pulmonary hypertension, primary, 1 [RCV005030775]	uncertain significance	2	202377479	202377479	Human	1	name
597678812	CV3709816	single nucleotide variant	NM_001204.7(BMPR2):c.55C>T (p.Leu19=)	Pulmonary hypertension, primary, 1 [RCV005030778]	uncertain significance	2	202377529	202377529	Human	1	name
597943462	CV3765814	single nucleotide variant	NM_001204.7(BMPR2):c.97C>T (p.Leu33=)	Primary pulmonary hypertension [RCV005119192]	likely benign	2	202464829	202464829	Human	2	name
598127516	CV3882712	single nucleotide variant	NM_001204.7(BMPR2):c.1A>G (p.Met1Val)	not provided [RCV005234243]	uncertain significance	2	202377475	202377475	Human		name
598162193	CV3945950	single nucleotide variant	NM_001204.7(BMPR2):c.75T>A (p.Ala25=)	Inborn genetic diseases [RCV005307159]	likely benign	2	202377549	202377549	Human	1	name
598249740	CV3946007	single nucleotide variant	NM_001204.7(BMPR2):c.69T>G (p.Thr23=)	Inborn genetic diseases [RCV005298217]	likely benign	2	202377543	202377543	Human	1	name
12905141	CV414045	deletion	NM_001204.6(BMPR2):c.(?_-1)_(*1_?)del	Pulmonary hypertension, primary, 1 [RCV000488509]	pathogenic	2	202377474	202559947	Human	1	name
12905066	CV414066	deletion	NM_001204.6(BMPR2):c.1277-?_1413+?del	Pulmonary hypertension, primary, 1 [RCV000488623]	pathogenic				Human	1	name
12905075	CV414067	duplication	NM_001204.6(BMPR2):c.1277-?_1413+?dup	Pulmonary hypertension, primary, 1 [RCV000488781]	pathogenic				Human	1	name
12905074	CV414068	deletion	NM_001204.6(BMPR2):c.1414-?_2866+?del	Pulmonary hypertension, primary, 1 [RCV000488773]	pathogenic				Human	1	name
12905268	CV414074	deletion	NM_001204.7(BMPR2):c.21del (p.Trp9fs)	Pulmonary hypertension, primary, 1 [RCV000488670]	pathogenic	2	202377494	202377494	Human	1	name
12905296	CV414324	microsatellite	NM_001204.7(BMPR2):c.1587-7_1587-4del	Primary pulmonary hypertension [RCV002063829]\|Pulmonary arterial hypertension [RCV004720265]\|Pulmonary hypertension, primary, 1 [RCV000488706]	pathogenic\|likely benign	2	202555238	202555241	Human		name
15145624	CV686118	single nucleotide variant	NM_001204.7(BMPR2):c.63C>T (p.Val21=)	Inborn genetic diseases [RCV003169125]\|Primary pulmonary hypertension [RCV001510866]\|Pulmonary hypertension, primary, 1 [RCV002501256]\|not provided [RCV000866121]	benign\|likely benign	2	202377537	202377537	Human	4	name
21405124	CV801000	deletion	NM_001204.7(BMPR2):c.19del (p.Arg7fs)	Pulmonary arterial hypertension [RCV001004023]	pathogenic	2	202377493	202377493	Human	2	name
28885461	CV883363	single nucleotide variant	NM_001204.7(BMPR2):c.57G>A (p.Leu19=)	Inborn genetic diseases [RCV004963143]\|Primary pulmonary hypertension [RCV002070611]\|Pulmonary hypertension, primary, 1 [RCV001137524]\|Pulmonary hypertension, primary, 1 [RCV002491412]	benign\|likely benign	2	202377531	202377531	Human	4	name
28885466	CV883364	single nucleotide variant	NM_001204.7(BMPR2):c.81G>A (p.Ser27=)	Inborn genetic diseases [RCV004963144]\|Primary pulmonary hypertension [RCV003595691]\|Pulmonary hypertension, primary, 1 [RCV001137525]	benign\|likely benign	2	202464813	202464813	Human	4	name
41405571	CV981383	deletion	NM_001204.7(BMPR2):c.12del (p.Leu5fs)	not provided [RCV001813070]	likely pathogenic	2	202377486	202377486	Human		name
126737856	CV1000317	single nucleotide variant	NM_001204.7(BMPR2):c.105G>A (p.Ala35=)	Inborn genetic diseases [RCV004970064]	likely benign	2	202464837	202464837	Human	1	name
127308480	CV1133034	single nucleotide variant	NM_001204.7(BMPR2):c.180C>T (p.Cys60=)	Primary pulmonary hypertension [RCV001500796]	likely benign	2	202464912	202464912	Human	2	name
152142644	CV1607386	single nucleotide variant	NM_001204.7(BMPR2):c.150A>G (p.Arg50=)	Inborn genetic diseases [RCV004965762]\|Primary pulmonary hypertension [RCV002100991]\|Pulmonary hypertension, primary, 1 [RCV002499948]	likely benign	2	202464882	202464882	Human	4	name
152103101	CV1656720	single nucleotide variant	NM_001204.7(BMPR2):c.147T>C (p.Ser49=)	Inborn genetic diseases [RCV005301115]\|Primary pulmonary hypertension [RCV002115604]	likely benign	2	202464879	202464879	Human	3	name
152108032	CV1657426	single nucleotide variant	NM_001204.7(BMPR2):c.165T>C (p.Asn55=)	Inborn genetic diseases [RCV004970850]\|Primary pulmonary hypertension [RCV002215083]	benign\|likely benign	2	202464897	202464897	Human	3	name
155684728	CV1827096	single nucleotide variant	NM_001204.7(BMPR2):c.14T>C (p.Leu5Pro)	Inborn genetic diseases [RCV002389907]	uncertain significance	2	202377488	202377488	Human	1	name
156228732	CV2019571	single nucleotide variant	NM_001204.7(BMPR2):c.175T>C (p.Leu59=)	Primary pulmonary hypertension [RCV002701277]	likely benign	2	202464907	202464907	Human	2	name
8598063	CV23853	deletion	NM_001204.7(BMPR2):c.44del (p.Pro15fs)	Pulmonary hypertension, primary, 1 [RCV000009360]\|Pulmonary venoocclusive disease 1 [RCV003984800]	pathogenic	2	202377517	202377517	Human	2	name
11545383	CV259244	single nucleotide variant	NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter)	Pulmonary arterial hypertension [RCV001823882]\|Pulmonary hypertension, primary, 1 [RCV000245061]	pathogenic\|not provided	2	202377490	202377490	Human	3	name
596929926	CV3538589	single nucleotide variant	NM_001204.7(BMPR2):c.10T>G (p.Ser4Ala)	not provided [RCV004792057]	uncertain significance	2	202377484	202377484	Human		name
597637063	CV3643063	single nucleotide variant	NM_001204.7(BMPR2):c.117G>A (p.Pro39=)	Inborn genetic diseases [RCV004970073]	likely benign	2	202464849	202464849	Human	1	name
597637105	CV3643076	single nucleotide variant	NM_001204.7(BMPR2):c.294A>G (p.Glu98=)	Inborn genetic diseases [RCV004970084]\|Primary pulmonary hypertension [RCV005061649]	likely benign	2	202467565	202467565	Human	3	name
597636816	CV3646854	single nucleotide variant	NM_001204.7(BMPR2):c.171A>T (p.Thr57=)	Inborn genetic diseases [RCV004969998]	likely benign	2	202464903	202464903	Human	1	name
597906537	CV3804065	single nucleotide variant	NM_001204.7(BMPR2):c.168G>A (p.Gly56=)	Inborn genetic diseases [RCV005303500]\|Primary pulmonary hypertension [RCV005153611]	likely benign	2	202464900	202464900	Human	3	name
598162257	CV3945985	single nucleotide variant	NM_001204.7(BMPR2):c.273C>T (p.Pro91=)	Inborn genetic diseases [RCV005307175]	likely benign	2	202467544	202467544	Human	1	name
598249914	CV3946054	single nucleotide variant	NM_001204.7(BMPR2):c.288T>C (p.Tyr96=)	Inborn genetic diseases [RCV005298248]	likely benign	2	202467559	202467559	Human	1	name
598162375	CV3946080	single nucleotide variant	NM_001204.7(BMPR2):c.159T>C (p.His53=)	Inborn genetic diseases [RCV005307206]	likely benign	2	202464891	202464891	Human	1	name
598250106	CV3946117	single nucleotide variant	NM_001204.7(BMPR2):c.123G>A (p.Gln41=)	Inborn genetic diseases [RCV005298284]	likely benign	2	202464855	202464855	Human	1	name
598162496	CV3946158	single nucleotide variant	NM_001204.7(BMPR2):c.219A>C (p.Ser73=)	Inborn genetic diseases [RCV005307236]	likely benign	2	202464951	202464951	Human	1	name
12905196	CV414070	indel	NM_001204.7(BMPR2):c.-947_-946delinsAT	Pulmonary hypertension, primary, 1 [RCV000488574]	pathogenic	2	202376528	202376529	Human		name
12905175	CV414075	single nucleotide variant	NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)	Pulmonary arterial hypertension [RCV001004025]\|Pulmonary hypertension, primary, 1 [RCV000488550]	pathogenic	2	202377501	202377501	Human	3	name
12905171	CV414122	indel	NM_001204.7(BMPR2):c.248-5_248delinsAC	Pulmonary hypertension, primary, 1 [RCV000488543]	pathogenic	2	202467514	202467519	Human		name
21404969	CV801005	deletion	NM_001204.7(BMPR2):c.247+136_418+99del	Pulmonary arterial hypertension [RCV001003877]	likely pathogenic	2	202465115	202467788	Human	2	name
28885471	CV883365	single nucleotide variant	NM_001204.7(BMPR2):c.111A>G (p.Lys37=)	Pulmonary hypertension, primary, 1 [RCV001137526]	uncertain significance	2	202464843	202464843	Human	1	name
28892330	CV883366	single nucleotide variant	NM_001204.7(BMPR2):c.198C>T (p.Cys66=)	Pulmonary hypertension, primary, 1 [RCV001139729]	uncertain significance	2	202464930	202464930	Human	1	name
28892337	CV883367	single nucleotide variant	NM_001204.7(BMPR2):c.261C>T (p.His87=)	Inborn genetic diseases [RCV005298709]\|Pulmonary hypertension, primary, 1 [RCV001139731]	likely benign\|uncertain significance	2	202467532	202467532	Human	2	name
127321264	CV1112125	single nucleotide variant	NM_001204.7(BMPR2):c.492G>A (p.Leu164=)	Inborn genetic diseases [RCV005298850]\|Primary pulmonary hypertension [RCV001467211]	likely benign	2	202513792	202513792	Human	3	name
127331058	CV1133035	single nucleotide variant	NM_001204.7(BMPR2):c.660C>A (p.Gly220=)	Primary pulmonary hypertension [RCV001488575]	likely benign	2	202518860	202518860	Human	2	name
127325169	CV1133036	single nucleotide variant	NM_001204.7(BMPR2):c.792T>C (p.Asp264=)	Inborn genetic diseases [RCV003161031]\|Primary pulmonary hypertension [RCV001505921]	likely benign	2	202518992	202518992	Human	3	name
150449716	CV1215145	deletion	NM_001204.7(BMPR2):c.968-123_968-121del	not provided [RCV001611735]	benign	2	202530670	202530672	Human		name
152130167	CV1582121	single nucleotide variant	NM_001204.7(BMPR2):c.771T>C (p.Ile257=)	Primary pulmonary hypertension [RCV002099376]	likely benign	2	202518971	202518971	Human	2	name
152128919	CV1584218	single nucleotide variant	NM_001204.7(BMPR2):c.513A>T (p.Gly171=)	Inborn genetic diseases [RCV004970839]\|Primary pulmonary hypertension [RCV002082598]	likely benign	2	202513813	202513813	Human	3	name
152108798	CV1604013	single nucleotide variant	NM_001204.7(BMPR2):c.615G>C (p.Leu205=)	Inborn genetic diseases [RCV005308701]\|Primary pulmonary hypertension [RCV002079964]	likely benign	2	202514973	202514973	Human	3	name
152159575	CV1605795	single nucleotide variant	NM_001204.7(BMPR2):c.954A>G (p.Glu318=)	Inborn genetic diseases [RCV005301112]\|Primary pulmonary hypertension [RCV002103536]	likely benign	2	202520188	202520188	Human	3	name
152080112	CV1620667	single nucleotide variant	NM_001204.7(BMPR2):c.753G>A (p.Leu251=)	Inborn genetic diseases [RCV004965766]\|Primary pulmonary hypertension [RCV002112631]	likely benign	2	202518953	202518953	Human	3	name
152978106	CV1671403	deletion	NM_001204.7(BMPR2):c.146del (p.Ser49fs)	not provided [RCV002227362]	pathogenic	2	202464878	202464878	Human		name
9687589	CV173629	single nucleotide variant	NM_001204.7(BMPR2):c.600A>C (p.Leu200=)	Inborn genetic diseases [RCV002354341]\|Primary pulmonary hypertension [RCV001507121]\|Pulmonary hypertension, primary, 1 [RCV000298330]\|Pulmonary hypertension, primary, 1 [RCV002483298]\|not provided [RCV000827070]\|not specified [RCV000150191]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	202514958	202514958	Human	4	name
156411224	CV1893015	single nucleotide variant	NM_001204.7(BMPR2):c.80C>T (p.Ser27Leu)	Inborn genetic diseases [RCV005310898]\|Primary pulmonary hypertension [RCV003072388]\|Pulmonary hypertension, primary, 1 [RCV005028197]	likely benign\|uncertain significance	2	202464812	202464812	Human	4	name
156141737	CV1898591	single nucleotide variant	NM_001204.7(BMPR2):c.68C>T (p.Thr23Ile)	Inborn genetic diseases [RCV004963429]\|Primary pulmonary hypertension [RCV003082228]	benign\|uncertain significance	2	202377542	202377542	Human	3	name
155981331	CV2025214	single nucleotide variant	NM_001204.7(BMPR2):c.615G>T (p.Leu205=)	Primary pulmonary hypertension [RCV002755340]	likely benign	2	202514973	202514973	Human	2	name
10410377	CV209583	duplication	NM_001204.7(BMPR2):c.186dup (p.Gly63fs)	Primary pulmonary hypertension [RCV001386215]\|Pulmonary arterial hypertension [RCV002285150]\|not provided [RCV000198060]	pathogenic\|likely pathogenic	2	202464915	202464916	Human	3	name
156258023	CV2113534	single nucleotide variant	NM_001204.7(BMPR2):c.327G>A (p.Gln109=)	Inborn genetic diseases [RCV005308862]\|Primary pulmonary hypertension [RCV002933780]	likely benign	2	202467598	202467598	Human	3	name
329848914	CV2523665	single nucleotide variant	NM_001204.7(BMPR2):c.89A>G (p.Gln30Arg)	Pulmonary hypertension, primary, 1 [RCV003225679]	uncertain significance	2	202464821	202464821	Human	1	name
405083347	CV2853914	single nucleotide variant	NM_001204.7(BMPR2):c.672G>A (p.Glu224=)	Primary pulmonary hypertension [RCV003596267]	likely benign	2	202518872	202518872	Human	2	name
11597076	CV287145	single nucleotide variant	NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser)	BMPR2-related disorder [RCV004549757]\|Inborn genetic diseases [RCV002374565]\|Primary pulmonary hypertension [RCV001507195]\|Pulmonary arterial hypertension [RCV004720254]\|Pulmonary hypertension, primary, 1 [RCV000389962]\|not provided [RCV005230259]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	202464818	202464818	Human	5	name , alternate_id
11651929	CV287146	single nucleotide variant	NM_001204.7(BMPR2):c.708C>T (p.Asn236=)	Inborn genetic diseases [RCV004965418]\|Primary pulmonary hypertension [RCV005090519]\|Pulmonary hypertension, primary, 1 [RCV000301947]	likely benign\|uncertain significance	2	202518908	202518908	Human	4	name
405086470	CV2881473	single nucleotide variant	NM_001204.7(BMPR2):c.969T>C (p.Asp323=)	Inborn genetic diseases [RCV005301310]\|Primary pulmonary hypertension [RCV003596744]	likely benign	2	202530795	202530795	Human	3	name
405087171	CV2881817	single nucleotide variant	NM_001204.7(BMPR2):c.67A>G (p.Thr23Ala)	Primary pulmonary hypertension [RCV003596750]\|Pulmonary hypertension, primary, 1 [RCV005030095]	benign\|likely benign	2	202377541	202377541	Human	3	name
405086751	CV2888826	single nucleotide variant	NM_001204.7(BMPR2):c.29G>A (p.Arg10Gln)	Inborn genetic diseases [RCV004369205]\|Primary pulmonary hypertension [RCV003596767]	likely benign\|uncertain significance	2	202377503	202377503	Human	3	name
405087486	CV2893505	single nucleotide variant	NM_001204.7(BMPR2):c.804T>C (p.Thr268=)	Inborn genetic diseases [RCV004963718]\|Primary pulmonary hypertension [RCV003596801]	likely benign	2	202519004	202519004	Human	3	name
405057748	CV2940316	single nucleotide variant	NM_001204.7(BMPR2):c.490T>C (p.Leu164=)	Inborn genetic diseases [RCV005301322]\|Primary pulmonary hypertension [RCV003761713]	likely benign	2	202513790	202513790	Human	3	name
405063011	CV2978896	single nucleotide variant	NM_001204.7(BMPR2):c.663C>T (p.Ser221=)	Primary pulmonary hypertension [RCV003762540]	likely benign	2	202518863	202518863	Human	2	name
405075200	CV3065166	single nucleotide variant	NM_001204.7(BMPR2):c.465G>A (p.Leu155=)	Primary pulmonary hypertension [RCV003764332]	likely benign	2	202513765	202513765	Human	2	name
405073274	CV3066799	single nucleotide variant	NM_001204.7(BMPR2):c.438C>T (p.Asn146=)	Inborn genetic diseases [RCV004968420]\|Primary pulmonary hypertension [RCV003764250]	likely benign	2	202513738	202513738	Human	3	name
405080468	CV3166778	single nucleotide variant	NM_001204.7(BMPR2):c.489T>C (p.Val163=)	Inborn genetic diseases [RCV004968519]\|Primary pulmonary hypertension [RCV003851552]	likely benign	2	202513789	202513789	Human	3	name
408373114	CV3502126	single nucleotide variant	NM_001204.7(BMPR2):c.91G>A (p.Glu31Lys)	Inborn genetic diseases [RCV004968604]\|not provided [RCV004725713]	uncertain significance	2	202464823	202464823	Human	1	name
597628166	CV3643041	single nucleotide variant	NM_001204.7(BMPR2):c.95G>A (p.Arg32Gln)	Inborn genetic diseases [RCV004970052]\|Pulmonary hypertension, primary, 1 [RCV005023754]	uncertain significance	2	202464827	202464827	Human	2	name
597637053	CV3643059	single nucleotide variant	NM_001204.7(BMPR2):c.834G>C (p.Val278=)	Inborn genetic diseases [RCV004970069]	likely benign	2	202519034	202519034	Human	1	name
597637109	CV3643077	single nucleotide variant	NM_001204.7(BMPR2):c.345C>T (p.Phe115=)	Inborn genetic diseases [RCV004970085]	likely benign	2	202467616	202467616	Human	1	name
597636844	CV3646864	single nucleotide variant	NM_001204.7(BMPR2):c.417C>T (p.Leu139=)	Inborn genetic diseases [RCV004970007]	likely benign	2	202467688	202467688	Human	1	name
597678793	CV3709814	single nucleotide variant	NM_001204.7(BMPR2):c.38G>C (p.Trp13Ser)	Pulmonary hypertension, primary, 1 [RCV005030776]	uncertain significance	2	202377512	202377512	Human	1	name
597678802	CV3709815	single nucleotide variant	NM_001204.7(BMPR2):c.39G>C (p.Trp13Cys)	Pulmonary hypertension, primary, 1 [RCV005030777]	uncertain significance	2	202377513	202377513	Human	1	name
597942632	CV3815624	single nucleotide variant	NM_001204.7(BMPR2):c.732G>A (p.Lys244=)	Primary pulmonary hypertension [RCV005159313]	likely benign	2	202518932	202518932	Human	2	name
597868250	CV3858264	single nucleotide variant	NM_001204.7(BMPR2):c.408A>G (p.Thr136=)	Primary pulmonary hypertension [RCV005197007]	likely benign	2	202467679	202467679	Human	2	name
598162202	CV3945957	single nucleotide variant	NM_001204.7(BMPR2):c.510T>C (p.Phe170=)	Inborn genetic diseases [RCV005307161]	likely benign	2	202513810	202513810	Human	1	name
598249563	CV3945959	single nucleotide variant	NM_001204.7(BMPR2):c.690A>G (p.Lys230=)	Inborn genetic diseases [RCV005298185]	likely benign	2	202518890	202518890	Human	1	name
598249569	CV3945961	single nucleotide variant	NM_001204.7(BMPR2):c.600A>G (p.Leu200=)	Inborn genetic diseases [RCV005298186]	likely benign	2	202514958	202514958	Human	1	name
598162235	CV3945969	single nucleotide variant	NM_001204.7(BMPR2):c.312T>A (p.Thr104=)	Inborn genetic diseases [RCV005307168]	likely benign	2	202467583	202467583	Human	1	name
598249642	CV3945986	single nucleotide variant	NM_001204.7(BMPR2):c.669T>C (p.Asp223=)	Inborn genetic diseases [RCV005298199]	likely benign	2	202518869	202518869	Human	1	name
598249703	CV3945999	single nucleotide variant	NM_001204.7(BMPR2):c.49A>T (p.Thr17Ser)	Inborn genetic diseases [RCV005298210]	uncertain significance	2	202377523	202377523	Human	1	name
598249776	CV3946016	single nucleotide variant	NM_001204.7(BMPR2):c.41T>C (p.Leu14Pro)	Inborn genetic diseases [RCV005298223]	uncertain significance	2	202377515	202377515	Human	1	name
598249812	CV3946026	single nucleotide variant	NM_001204.7(BMPR2):c.381T>C (p.Phe127=)	Inborn genetic diseases [RCV005298230]	likely benign	2	202467652	202467652	Human	1	name
598249867	CV3946040	single nucleotide variant	NM_001204.7(BMPR2):c.68C>G (p.Thr23Ser)	Inborn genetic diseases [RCV005298239]	uncertain significance	2	202377542	202377542	Human	1	name
598162368	CV3946075	single nucleotide variant	NM_001204.7(BMPR2):c.44C>T (p.Pro15Leu)	Inborn genetic diseases [RCV005307204]	likely benign	2	202377518	202377518	Human	1	name
598249997	CV3946086	single nucleotide variant	NM_001204.7(BMPR2):c.834G>A (p.Val278=)	Inborn genetic diseases [RCV005298265]	likely benign	2	202519034	202519034	Human	1	name
598162408	CV3946107	single nucleotide variant	NM_001204.7(BMPR2):c.70G>A (p.Ala24Thr)	Inborn genetic diseases [RCV005307215]	uncertain significance	2	202377544	202377544	Human	1	name
598162442	CV3946124	single nucleotide variant	NM_001204.7(BMPR2):c.471A>G (p.Ser157=)	Inborn genetic diseases [RCV005307223]	likely benign	2	202513771	202513771	Human	1	name
598162446	CV3946125	single nucleotide variant	NM_001204.7(BMPR2):c.664T>C (p.Leu222=)	Inborn genetic diseases [RCV005307224]	likely benign	2	202518864	202518864	Human	1	name
598250145	CV3946129	single nucleotide variant	NM_001204.7(BMPR2):c.414A>G (p.Pro138=)	Inborn genetic diseases [RCV005298291]	likely benign	2	202467685	202467685	Human	1	name
598162491	CV3946152	single nucleotide variant	NM_001204.7(BMPR2):c.945T>C (p.Leu315=)	Inborn genetic diseases [RCV005307235]	likely benign	2	202520179	202520179	Human	1	name
598250257	CV3946160	single nucleotide variant	NM_001204.7(BMPR2):c.459T>C (p.Ile153=)	Inborn genetic diseases [RCV005298312]	likely benign	2	202513759	202513759	Human	1	name
12905260	CV414040	deletion	NM_001204.6(BMPR2):c.(?_-540)_(*1_?)del	Pulmonary hypertension, primary, 1 [RCV000488659]	pathogenic	2	202376935	202559947	Human	1	name
12905275	CV414076	single nucleotide variant	NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp)	Pulmonary hypertension, primary, 1 [RCV000488679]	pathogenic	2	202377502	202377502	Human	1	name
12905389	CV414077	single nucleotide variant	NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter)	Primary pulmonary hypertension [RCV001856887]\|Pulmonary hypertension, primary, 1 [RCV000488831]\|not provided [RCV001810972]	pathogenic	2	202377512	202377512	Human	3	name
12905204	CV414078	single nucleotide variant	NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter)	Pulmonary arterial hypertension [RCV001823906]\|Pulmonary hypertension, primary, 1 [RCV000488586]	pathogenic\|not provided	2	202377513	202377513	Human	3	name
12905303	CV414079	single nucleotide variant	NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter)	Primary pulmonary hypertension [RCV005090987]\|Pulmonary arterial hypertension [RCV001823907]\|Pulmonary hypertension, primary, 1 [RCV000488715]	pathogenic\|not provided	2	202377521	202377521	Human	4	name
12905384	CV414080	single nucleotide variant	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2-related disorder [RCV004551606]\|Primary pulmonary hypertension [RCV002230968]\|Pulmonary arterial hypertension [RCV001003644]\|Pulmonary hypertension, primary, 1 [RCV000488825]	pathogenic	2	202377522	202377522	Human	4	name , alternate_id
12905312	CV414081	single nucleotide variant	NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu)	Pulmonary hypertension, primary, 1 [RCV000488728]	pathogenic	2	202377545	202377545	Human	1	name
12905302	CV414087	single nucleotide variant	NM_001204.7(BMPR2):c.82C>T (p.Gln28Ter)	Pulmonary hypertension, primary, 1 [RCV000488714]	pathogenic	2	202464814	202464814	Human	1	name
12905396	CV414088	single nucleotide variant	NM_001204.7(BMPR2):c.88C>T (p.Gln30Ter)	Pulmonary hypertension, primary, 1 [RCV000488840]	pathogenic	2	202464820	202464820	Human	1	name
12905209	CV414089	single nucleotide variant	NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter)	Primary pulmonary hypertension [RCV003595998]\|Pulmonary hypertension, primary, 1 [RCV000488591]	pathogenic	2	202464823	202464823	Human	3	name
12905398	CV414091	deletion	NM_001204.7(BMPR2):c.103del (p.Ala35fs)	Pulmonary hypertension, primary, 1 [RCV000488842]	pathogenic	2	202464835	202464835	Human	1	name
12905192	CV414092	deletion	NM_001204.7(BMPR2):c.116del (p.Pro39fs)	Pulmonary hypertension, primary, 1 [RCV000488570]	pathogenic	2	202464847	202464847	Human	1	name
12905113	CV414097	deletion	NM_001204.7(BMPR2):c.168del (p.Thr57fs)	Pulmonary hypertension, primary, 1 [RCV000488468]	pathogenic	2	202464898	202464898	Human	1	name
12905325	CV414115	duplication	NM_001204.7(BMPR2):c.246dup (p.Gly83fs)	Pulmonary hypertension, primary, 1 [RCV000488744]	pathogenic	2	202464976	202464977	Human	1	name
12905390	CV414131	duplication	NM_001204.7(BMPR2):c.260dup (p.His87fs)	Primary pulmonary hypertension [RCV001856888]\|Pulmonary hypertension, primary, 1 [RCV000488832]	pathogenic	2	202467530	202467531	Human	3	name
12905245	CV414134	duplication	NM_001204.7(BMPR2):c.277dup (p.Glu93fs)	Pulmonary hypertension, primary, 1 [RCV000488638]	pathogenic	2	202467547	202467548	Human	1	name
15128114	CV683473	single nucleotide variant	NM_001204.7(BMPR2):c.981T>C (p.Pro327=)	Inborn genetic diseases [RCV004029324]\|Primary pulmonary hypertension [RCV001420973]\|Pulmonary hypertension, primary, 1 [RCV000863024]\|not provided [RCV004711316]	benign\|likely benign	2	202530807	202530807	Human	4	name
15116661	CV691012	single nucleotide variant	NM_001204.7(BMPR2):c.726C>T (p.Asn242=)	Inborn genetic diseases [RCV004962895]\|Primary pulmonary hypertension [RCV003103867]\|Pulmonary hypertension, primary, 1 [RCV002495304]	likely benign	2	202518926	202518926	Human	4	name
15158738	CV747172	single nucleotide variant	NM_001204.7(BMPR2):c.858T>C (p.Ser286=)	Inborn genetic diseases [RCV004962954]\|Primary pulmonary hypertension [RCV000925135]	likely benign	2	202520092	202520092	Human	3	name
21405874	CV799274	duplication	NM_001204.7(BMPR2):c.270dup (p.Pro91fs)	none provided [RCV001001317]	likely pathogenic	2	202467540	202467541	Human		name
21404966	CV801002	deletion	NM_001204.7(BMPR2):c.77-3572_418+119del	Pulmonary arterial hypertension [RCV001003875]	pathogenic	2	202461235	202467806	Human	2	name
21404967	CV801003	deletion	NM_001204.7(BMPR2):c.77-2315_248-646del	Pulmonary arterial hypertension [RCV001003876]	likely pathogenic	2	202462494	202466873	Human	2	name
21404698	CV801008	deletion	NM_001204.7(BMPR2):c.274del (p.Gln92fs)	Primary pulmonary hypertension [RCV002551705]\|Pulmonary arterial hypertension [RCV001003657]	pathogenic	2	202467542	202467542	Human	3	name
26916390	CV825601	duplication	NM_001204.7(BMPR2):c.142dup (p.Glu48fs)	Primary pulmonary hypertension [RCV001040295]	pathogenic	2	202464873	202464874	Human	2	name
28892341	CV883368	single nucleotide variant	NM_001204.7(BMPR2):c.549T>C (p.Leu183=)	Inborn genetic diseases [RCV002348578]\|Primary pulmonary hypertension [RCV005093624]\|Pulmonary hypertension, primary, 1 [RCV001139732]\|Pulmonary hypertension, primary, 1 [RCV002491418]	benign\|likely benign	2	202514907	202514907	Human	4	name
127251493	CV1068937	single nucleotide variant	NM_001204.7(BMPR2):c.1734T>C (p.Thr578=)	Inborn genetic diseases [RCV005298830]\|Primary pulmonary hypertension [RCV001400103]	likely benign	2	202555399	202555399	Human	3	name
127231089	CV1068938	single nucleotide variant	NM_001204.7(BMPR2):c.1866A>G (p.Pro622=)	Primary pulmonary hypertension [RCV001412890]	likely benign	2	202555531	202555531	Human	2	name
127240490	CV1090602	single nucleotide variant	NM_001204.7(BMPR2):c.1863G>A (p.Thr621=)	Inborn genetic diseases [RCV002414004]\|Primary pulmonary hypertension [RCV001423351]\|Pulmonary hypertension, primary, 1 [RCV002495573]	likely benign	2	202555528	202555528	Human	4	name
127327966	CV1112127	single nucleotide variant	NM_001204.7(BMPR2):c.1317G>A (p.Glu439=)	Inborn genetic diseases [RCV005298851]\|Primary pulmonary hypertension [RCV001469362]	likely benign	2	202542351	202542351	Human	3	name
127311966	CV1112128	single nucleotide variant	NM_001204.7(BMPR2):c.1497A>G (p.Glu499=)	Inborn genetic diseases [RCV005298845]\|Primary pulmonary hypertension [RCV001457038]	likely benign	2	202552799	202552799	Human	3	name
127294915	CV1112129	single nucleotide variant	NM_001204.7(BMPR2):c.1500G>A (p.Arg500=)	Inborn genetic diseases [RCV002396081]\|Primary pulmonary hypertension [RCV001459596]	likely benign	2	202552802	202552802	Human	3	name
127327576	CV1112130	single nucleotide variant	NM_001204.7(BMPR2):c.1972C>T (p.Leu658=)	Inborn genetic diseases [RCV002421066]\|Primary pulmonary hypertension [RCV001469135]	likely benign	2	202555637	202555637	Human	3	name
127304535	CV1112131	single nucleotide variant	NM_001204.7(BMPR2):c.2442C>T (p.His814=)	Inborn genetic diseases [RCV005308465]\|Primary pulmonary hypertension [RCV001462286]	likely benign	2	202556107	202556107	Human	3	name
127287199	CV1133038	single nucleotide variant	NM_001204.7(BMPR2):c.2097G>C (p.Leu699=)	Primary pulmonary hypertension [RCV001494799]	likely benign	2	202555762	202555762	Human	2	name
127320402	CV1153953	single nucleotide variant	NM_001204.7(BMPR2):c.1875C>T (p.Gly625=)	Inborn genetic diseases [RCV004968201]\|Primary pulmonary hypertension [RCV001522615]	benign\|likely benign	2	202555540	202555540	Human	3	name
151352646	CV1321742	single nucleotide variant	NM_001204.7(BMPR2):c.2577T>C (p.Asn859=)	not provided [RCV001812603]	likely benign	2	202556242	202556242	Human		name
151662556	CV1330428	single nucleotide variant	NM_001204.7(BMPR2):c.218C>A (p.Ser73Ter)	Pulmonary arterial hypertension [RCV001823965]	not provided	2	202464950	202464950	Human		name
151662563	CV1330432	single nucleotide variant	NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp)	Pulmonary arterial hypertension [RCV001823969]	not provided	2	202467568	202467568	Human		name
151712107	CV1374421	single nucleotide variant	NM_001204.7(BMPR2):c.120T>A (p.Tyr40Ter)	Primary pulmonary hypertension [RCV001908225]	pathogenic	2	202464852	202464852	Human	2	name
151762933	CV1384276	deletion	NM_001204.7(BMPR2):c.346del (p.Cys116fs)	Primary pulmonary hypertension [RCV001987486]	pathogenic	2	202467617	202467617	Human	2	name
8690282	CV140232	single nucleotide variant	NM_001204.7(BMPR2):c.2811G>A (p.Arg937=)	Primary pulmonary hypertension [RCV001517029]\|Pulmonary hypertension, primary, 1 [RCV000281956]\|not provided [RCV001811992]\|not specified [RCV000150194]	benign	2	202556476	202556476	Human	3	name
151740625	CV1425317	duplication	NM_001204.7(BMPR2):c.409dup (p.Thr137fs)	Primary pulmonary hypertension [RCV001926433]	pathogenic	2	202467678	202467679	Human	2	name
152084735	CV1525532	single nucleotide variant	NM_001204.7(BMPR2):c.2007C>T (p.Asp669=)	Primary pulmonary hypertension [RCV002131282]	likely benign	2	202555672	202555672	Human	2	name
152058571	CV1543815	single nucleotide variant	NM_001204.7(BMPR2):c.1686C>T (p.Ile562=)	Inborn genetic diseases [RCV005308728]\|Primary pulmonary hypertension [RCV002128072]	likely benign	2	202555351	202555351	Human	3	name
152171108	CV1552576	single nucleotide variant	NM_001204.7(BMPR2):c.2565C>T (p.Asp855=)	Inborn genetic diseases [RCV005301123]\|Primary pulmonary hypertension [RCV002143340]	likely benign	2	202556230	202556230	Human	3	name
152065766	CV1556825	single nucleotide variant	NM_001204.7(BMPR2):c.2913C>T (p.Ile971=)	Inborn genetic diseases [RCV005308739]\|Primary pulmonary hypertension [RCV002191146]	likely benign	2	202559742	202559742	Human	3	name
152102550	CV1560314	single nucleotide variant	NM_001204.7(BMPR2):c.147T>G (p.Ser49Arg)	Inborn genetic diseases [RCV004965779]\|Primary pulmonary hypertension [RCV002151984]\|not provided [RCV005232860]	benign\|uncertain significance	2	202464879	202464879	Human	3	name
152174042	CV1568856	single nucleotide variant	NM_001204.7(BMPR2):c.1746A>G (p.Lys582=)	Inborn genetic diseases [RCV004965805]\|Primary pulmonary hypertension [RCV002184372]	likely benign	2	202555411	202555411	Human	3	name
152163064	CV1600708	single nucleotide variant	NM_001204.7(BMPR2):c.1362T>C (p.Ser454=)	Primary pulmonary hypertension [RCV002141259]	likely benign	2	202542396	202542396	Human	2	name
152159522	CV1605783	single nucleotide variant	NM_001204.7(BMPR2):c.2493A>G (p.Leu831=)	Inborn genetic diseases [RCV004965761]\|Primary pulmonary hypertension [RCV002103526]	likely benign	2	202556158	202556158	Human	3	name
152091935	CV1647086	single nucleotide variant	NM_001204.7(BMPR2):c.1293G>A (p.Glu431=)	Inborn genetic diseases [RCV004965793]\|Primary pulmonary hypertension [RCV002150704]	likely benign	2	202542327	202542327	Human	3	name
152102224	CV1667218	single nucleotide variant	NM_001204.7(BMPR2):c.1356C>T (p.Leu452=)	Inborn genetic diseases [RCV005301130]\|Primary pulmonary hypertension [RCV003597417]\|not provided [RCV002214204]	likely benign	2	202542390	202542390	Human	3	name
155266068	CV1704943	duplication	NM_001204.7(BMPR2):c.189dup (p.Ser64Ter)	Pulmonary arterial hypertension [RCV002285241]	pathogenic	2	202464920	202464921	Human	2	name
155266074	CV1704946	deletion	NM_001204.7(BMPR2):c.978del (p.Lys326fs)	Pulmonary arterial hypertension [RCV002285244]	pathogenic	2	202530802	202530802	Human	2	name
155645946	CV1709304	single nucleotide variant	NM_001204.7(BMPR2):c.104C>T (p.Ala35Val)	Inborn genetic diseases [RCV005308757]\|not provided [RCV002292180]	uncertain significance	2	202464836	202464836	Human	1	name
155713167	CV1828109	single nucleotide variant	NM_001204.7(BMPR2):c.1668C>A (p.Ile556=)	Inborn genetic diseases [RCV002403929]	likely benign	2	202555333	202555333	Human	1	name
155679023	CV1854117	single nucleotide variant	NM_001204.7(BMPR2):c.2742T>C (p.Asp914=)	Inborn genetic diseases [RCV002439268]	likely benign	2	202556407	202556407	Human	1	name
156381467	CV1868371	single nucleotide variant	NM_001204.7(BMPR2):c.182C>T (p.Ser61Leu)	Inborn genetic diseases [RCV005301229]\|Primary pulmonary hypertension [RCV003050521]\|Pulmonary hypertension, primary, 1 [RCV005028142]	likely benign\|uncertain significance	2	202464914	202464914	Human	4	name
156049885	CV1868958	single nucleotide variant	NM_001204.7(BMPR2):c.1542G>A (p.Val514=)	Inborn genetic diseases [RCV004963367]\|Primary pulmonary hypertension [RCV003052959]	likely benign	2	202552844	202552844	Human	3	name
156330199	CV1884312	single nucleotide variant	NM_001204.7(BMPR2):c.150A>T (p.Arg50Ser)	Primary pulmonary hypertension [RCV003089746]	likely benign	2	202464882	202464882	Human	2	name
156411781	CV1893963	single nucleotide variant	NM_001204.7(BMPR2):c.2634C>T (p.Gly878=)	Inborn genetic diseases [RCV004963417]\|Primary pulmonary hypertension [RCV003072624]	likely benign	2	202556299	202556299	Human	3	name
10050682	CV192299	single nucleotide variant	NM_001204.7(BMPR2):c.136A>G (p.Ile46Val)	Pulmonary hypertension, primary, 1 [RCV002492748]\|not provided [RCV000175688]	uncertain significance	2	202464868	202464868	Human	1	name
156384579	CV1979873	single nucleotide variant	NM_001204.7(BMPR2):c.2487A>G (p.Thr829=)	Inborn genetic diseases [RCV005301166]\|Primary pulmonary hypertension [RCV002634523]	likely benign	2	202556152	202556152	Human	3	name
155982100	CV2025339	single nucleotide variant	NM_001204.7(BMPR2):c.2955C>T (p.Arg985=)	Primary pulmonary hypertension [RCV002755375]	likely benign	2	202559784	202559784	Human	2	name
156124881	CV2040057	single nucleotide variant	NM_001204.7(BMPR2):c.1377A>G (p.Arg459=)	Primary pulmonary hypertension [RCV002785938]	likely benign	2	202542411	202542411	Human	2	name
156099867	CV2087943	single nucleotide variant	NM_001204.7(BMPR2):c.1023G>C (p.Val341=)	Primary pulmonary hypertension [RCV002848042]	likely benign	2	202530849	202530849	Human	2	name
156157812	CV2094981	single nucleotide variant	NM_001204.7(BMPR2):c.2745T>G (p.Val915=)	Primary pulmonary hypertension [RCV002890872]	likely benign	2	202556410	202556410	Human	2	name
10409547	CV209584	single nucleotide variant	NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)	Primary pulmonary hypertension [RCV003595882]\|Pulmonary arterial hypertension [RCV001823879]\|Pulmonary hypertension, primary, 1 [RCV000488549]\|not provided [RCV000196343]	pathogenic\|uncertain significance\|not provided	2	202467566	202467566	Human	4	name
156005915	CV2099736	single nucleotide variant	NM_001204.7(BMPR2):c.1395C>T (p.Ala465=)	Primary pulmonary hypertension [RCV002908855]	likely benign	2	202542429	202542429	Human	2	name
156240940	CV2152500	single nucleotide variant	NM_001204.7(BMPR2):c.1743A>G (p.Glu581=)	Primary pulmonary hypertension [RCV003008097]	likely benign	2	202555408	202555408	Human	2	name
156053148	CV2192533	duplication	NM_001204.7(BMPR2):c.862dup (p.Cys288fs)	not provided [RCV003036981]	pathogenic	2	202520095	202520096	Human		name
12907284	CV227232	single nucleotide variant	NM_001204.7(BMPR2):c.276A>C (p.Gln92His)	Primary pulmonary hypertension [RCV002517440]\|Pulmonary arterial hypertension [RCV004777621]\|Pulmonary hypertension, primary, 1 [RCV000488455]\|Pulmonary hypertension, primary, 1 [RCV002494550]\|not provided [RCV001753635]	benign\|likely benign\|uncertain significance	2	202467547	202467547	Human	4	name
8598049	CV23836	single nucleotide variant	NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)	Pulmonary arterial hypertension [RCV001003653]\|Pulmonary hypertension, primary, 1 [RCV000009342]	pathogenic	2	202464950	202464950	Human	3	name
8598064	CV23854	single nucleotide variant	NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter)	Pulmonary venoocclusive disease 1 [RCV003984801]	pathogenic	2	202464852	202464852	Human	1	name
401768466	CV2716624	single nucleotide variant	NM_001204.7(BMPR2):c.187G>C (p.Gly63Arg)	Inborn genetic diseases [RCV003283199]	uncertain significance	2	202464919	202464919	Human	1	name
401859512	CV2757044	single nucleotide variant	NM_001204.7(BMPR2):c.235C>T (p.Leu79Phe)	Inborn genetic diseases [RCV003341907]	uncertain significance	2	202464967	202464967	Human	1	name
401890796	CV2778356	single nucleotide variant	NM_001204.7(BMPR2):c.1095C>T (p.Arg365=)	BMPR2-related disorder [RCV004548616]\|Inborn genetic diseases [RCV003354580]	likely benign	2	202530921	202530921	Human	2	name , alternate_id
401930043	CV2819502	single nucleotide variant	NM_001204.7(BMPR2):c.1053C>T (p.Asp351=)	Inborn genetic diseases [RCV004963656]\|not provided [RCV003440135]	likely benign	2	202530879	202530879	Human	1	name
11581901	CV284800	single nucleotide variant	NM_001204.7(BMPR2):c.2352C>T (p.Val784=)	Inborn genetic diseases [RCV004965421]\|Primary pulmonary hypertension [RCV001415645]\|Pulmonary arterial hypertension [RCV004549759]\|Pulmonary hypertension, primary, 1 [RCV000389236]	likely benign\|uncertain significance	2	202556017	202556017	Human	5	name
405083753	CV2865074	single nucleotide variant	NM_001204.7(BMPR2):c.248G>T (p.Gly83Val)	Primary pulmonary hypertension [RCV003596302]	uncertain significance	2	202467519	202467519	Human	2	name
11584463	CV287147	single nucleotide variant	NM_001204.7(BMPR2):c.2379A>C (p.Thr793=)	Inborn genetic diseases [RCV004965422]\|Primary pulmonary hypertension [RCV001518153]\|Pulmonary hypertension, primary, 1 [RCV000273859]	benign\|likely benign	2	202556044	202556044	Human	4	name
11591667	CV287150	single nucleotide variant	NM_001204.7(BMPR2):c.2748T>C (p.Leu916=)	Inborn genetic diseases [RCV002436189]\|Primary pulmonary hypertension [RCV002229884]\|Pulmonary hypertension, primary, 1 [RCV000331108]\|not provided [RCV004709889]	benign\|likely benign	2	202556413	202556413	Human	4	name
405085118	CV2875769	single nucleotide variant	NM_001204.7(BMPR2):c.272C>T (p.Pro91Leu)	Primary pulmonary hypertension [RCV003596420]	benign	2	202467543	202467543	Human	2	name
405086856	CV2882493	single nucleotide variant	NM_001204.7(BMPR2):c.2142A>G (p.Ala714=)	Primary pulmonary hypertension [RCV003596778]	likely benign	2	202555807	202555807	Human	2	name
405086430	CV2885123	single nucleotide variant	NM_001204.7(BMPR2):c.2103T>C (p.Ser701=)	Inborn genetic diseases [RCV004963707]\|Primary pulmonary hypertension [RCV003596740]	likely benign	2	202555768	202555768	Human	3	name
405086177	CV2887501	single nucleotide variant	NM_001204.7(BMPR2):c.2958C>G (p.Pro986=)	Primary pulmonary hypertension [RCV003596720]	likely benign	2	202559787	202559787	Human	2	name
405086344	CV2891544	single nucleotide variant	NM_001204.7(BMPR2):c.2985G>A (p.Ser995=)	Inborn genetic diseases [RCV005301308]\|Primary pulmonary hypertension [RCV003596733]	likely benign	2	202559814	202559814	Human	3	name
405089216	CV2897644	single nucleotide variant	NM_001204.7(BMPR2):c.2889C>G (p.Gly963=)	Primary pulmonary hypertension [RCV003596949]	likely benign	2	202559718	202559718	Human	2	name
405088001	CV2899516	single nucleotide variant	NM_001204.7(BMPR2):c.2358T>C (p.Thr786=)	Primary pulmonary hypertension [RCV003596872]	likely benign	2	202556023	202556023	Human	2	name
405087765	CV2901457	single nucleotide variant	NM_001204.7(BMPR2):c.254G>A (p.Trp85Ter)	Primary pulmonary hypertension [RCV003596854]	pathogenic	2	202467525	202467525	Human	2	name
405092530	CV2927888	single nucleotide variant	NM_001204.7(BMPR2):c.2094A>T (p.Pro698=)	Primary pulmonary hypertension [RCV003597185]	likely benign	2	202555759	202555759	Human	2	name
405090880	CV2928456	single nucleotide variant	NM_001204.7(BMPR2):c.116C>T (p.Pro39Leu)	Inborn genetic diseases [RCV004369458]\|Primary pulmonary hypertension [RCV003597107]	likely benign\|uncertain significance	2	202464848	202464848	Human	3	name
405092706	CV2933104	single nucleotide variant	NM_001204.7(BMPR2):c.1344T>C (p.Asp448=)	Primary pulmonary hypertension [RCV003597161]	likely benign	2	202542378	202542378	Human	2	name
405060561	CV2964215	single nucleotide variant	NM_001204.7(BMPR2):c.2310G>A (p.Arg770=)	Primary pulmonary hypertension [RCV003762402]	likely benign	2	202555975	202555975	Human	2	name
405061077	CV2975868	single nucleotide variant	NM_001204.7(BMPR2):c.253T>C (p.Trp85Arg)	Primary pulmonary hypertension [RCV003762447]	uncertain significance	2	202467524	202467524	Human	2	name
405062056	CV2981935	single nucleotide variant	NM_001204.7(BMPR2):c.2979T>C (p.Thr993=)	Primary pulmonary hypertension [RCV003762529]	likely benign	2	202559808	202559808	Human	2	name
405067374	CV3019564	deletion	NM_001204.7(BMPR2):c.595del (p.Asp199fs)	Primary pulmonary hypertension [RCV003763415]	pathogenic	2	202514953	202514953	Human	2	name
405067169	CV3026058	single nucleotide variant	NM_001204.7(BMPR2):c.2094A>C (p.Pro698=)	Primary pulmonary hypertension [RCV003763399]	likely benign	2	202555759	202555759	Human	2	name
405068003	CV3027002	single nucleotide variant	NM_001204.7(BMPR2):c.1719C>T (p.Ser573=)	Primary pulmonary hypertension [RCV003763426]	likely benign	2	202555384	202555384	Human	2	name
405073013	CV3045316	single nucleotide variant	NM_001204.7(BMPR2):c.1842C>G (p.Thr614=)	Inborn genetic diseases [RCV004963787]\|Primary pulmonary hypertension [RCV003763724]	likely benign	2	202555507	202555507	Human	3	name
405073063	CV3052229	single nucleotide variant	NM_001204.7(BMPR2):c.2898A>G (p.Gly966=)	Primary pulmonary hypertension [RCV003764237]	likely benign	2	202559727	202559727	Human	2	name
405071651	CV3054684	single nucleotide variant	NM_001204.7(BMPR2):c.2832A>G (p.Ser944=)	Inborn genetic diseases [RCV004963785]\|Primary pulmonary hypertension [RCV003763701]	likely benign	2	202556497	202556497	Human	3	name
405210403	CV3117656	single nucleotide variant	NM_001204.7(BMPR2):c.2970C>T (p.Val990=)	Inborn genetic diseases [RCV005301391]\|Primary pulmonary hypertension [RCV003823255]	likely benign	2	202559799	202559799	Human	3	name
405159573	CV3124947	single nucleotide variant	NM_001204.7(BMPR2):c.2124C>T (p.Tyr708=)	Inborn genetic diseases [RCV005311072]\|Primary pulmonary hypertension [RCV003818218]	likely benign	2	202555789	202555789	Human	3	name
405207872	CV3162373	single nucleotide variant	NM_001204.7(BMPR2):c.1083T>C (p.Asn361=)	Primary pulmonary hypertension [RCV003861672]	likely benign	2	202530909	202530909	Human	2	name
405243374	CV3164807	single nucleotide variant	NM_001204.7(BMPR2):c.2307C>G (p.Pro769=)	Primary pulmonary hypertension [RCV003867888]	likely benign	2	202555972	202555972	Human	2	name
405255131	CV3175676	single nucleotide variant	NM_001204.7(BMPR2):c.2820T>C (p.Ser940=)	Primary pulmonary hypertension [RCV003871943]	likely benign	2	202556485	202556485	Human	2	name
405797839	CV3386258	single nucleotide variant	NM_001204.7(BMPR2):c.2598G>A (p.Glu866=)	Inborn genetic diseases [RCV004508170]	likely benign	2	202556263	202556263	Human	1	name
405870323	CV3401568	deletion	NM_001204.7(BMPR2):c.663del (p.Leu222fs)	Pulmonary hypertension, primary, 1 [RCV004578024]	pathogenic	2	202518862	202518862	Human	1	name
408379285	CV3506825	deletion	NM_001204.7(BMPR2):c.614del (p.Leu205fs)	BMPR2-related disorder [RCV004728348]	pathogenic	2	202514972	202514972	Human		name , trait , alternate_id
596921299	CV3534943	deletion	NM_001204.7(BMPR2):c.344del (p.Phe115fs)	not provided [RCV004784501]	pathogenic	2	202467613	202467613	Human		name
596939036	CV3550200	single nucleotide variant	NM_001204.7(BMPR2):c.256T>A (p.Ser86Thr)	Pulmonary hypertension, primary, 1 [RCV004813502]	uncertain significance	2	202467527	202467527	Human	1	name
597636959	CV3643028	single nucleotide variant	NM_001204.7(BMPR2):c.2244G>A (p.Gln748=)	Inborn genetic diseases [RCV004970041]	likely benign	2	202555909	202555909	Human	1	name
597636973	CV3643033	single nucleotide variant	NM_001204.7(BMPR2):c.184A>G (p.Lys62Glu)	Inborn genetic diseases [RCV004970045]	uncertain significance	2	202464916	202464916	Human	1	name
597636998	CV3643039	single nucleotide variant	NM_001204.7(BMPR2):c.1290A>G (p.Pro430=)	Inborn genetic diseases [RCV004970051]	likely benign	2	202542324	202542324	Human	1	name
597637004	CV3643043	single nucleotide variant	NM_001204.7(BMPR2):c.1812T>C (p.Ser604=)	Inborn genetic diseases [RCV004970054]	likely benign	2	202555477	202555477	Human	1	name
597637013	CV3643045	single nucleotide variant	NM_001204.7(BMPR2):c.2547T>C (p.Asn849=)	Inborn genetic diseases [RCV004970056]	likely benign	2	202556212	202556212	Human	1	name
597637021	CV3643048	single nucleotide variant	NM_001204.7(BMPR2):c.1794C>T (p.Ile598=)	Inborn genetic diseases [RCV004970058]	likely benign	2	202555459	202555459	Human	1	name
597637030	CV3643051	single nucleotide variant	NM_001204.7(BMPR2):c.2160G>A (p.Gln720=)	Inborn genetic diseases [RCV004970061]	likely benign	2	202555825	202555825	Human	1	name
597628169	CV3643053	single nucleotide variant	NM_001204.7(BMPR2):c.194C>T (p.Thr65Ile)	Inborn genetic diseases [RCV004970063]\|Pulmonary hypertension, primary, 1 [RCV005023755]	uncertain significance	2	202464926	202464926	Human	2	name
597637060	CV3643062	single nucleotide variant	NM_001204.7(BMPR2):c.1113T>C (p.Asn371=)	Inborn genetic diseases [RCV004970072]	likely benign	2	202530939	202530939	Human	1	name
597637075	CV3643067	single nucleotide variant	NM_001204.7(BMPR2):c.2790A>C (p.Ser930=)	Inborn genetic diseases [RCV004970076]	likely benign	2	202556455	202556455	Human	1	name
597636833	CV3646861	single nucleotide variant	NM_001204.7(BMPR2):c.182C>G (p.Ser61Trp)	Inborn genetic diseases [RCV004970004]	uncertain significance	2	202464914	202464914	Human	1	name
597636851	CV3646867	single nucleotide variant	NM_001204.7(BMPR2):c.2496T>G (p.Ser832=)	Inborn genetic diseases [RCV004970009]	likely benign	2	202556161	202556161	Human	1	name
597636864	CV3646871	single nucleotide variant	NM_001204.7(BMPR2):c.1620T>A (p.Ile540=)	Inborn genetic diseases [RCV004970013]	likely benign	2	202555285	202555285	Human	1	name
597636867	CV3646872	single nucleotide variant	NM_001204.7(BMPR2):c.1704T>C (p.Ser568=)	Inborn genetic diseases [RCV004970014]	likely benign	2	202555369	202555369	Human	1	name
597636873	CV3646874	single nucleotide variant	NM_001204.7(BMPR2):c.1770A>G (p.Glu590=)	Inborn genetic diseases [RCV004970016]	likely benign	2	202555435	202555435	Human	1	name
597636917	CV3646891	single nucleotide variant	NM_001204.7(BMPR2):c.1647C>T (p.Ser549=)	Inborn genetic diseases [RCV004970030]	likely benign	2	202555312	202555312	Human	1	name
597636939	CV3646897	single nucleotide variant	NM_001204.7(BMPR2):c.1818C>T (p.Thr606=)	Inborn genetic diseases [RCV004970036]	likely benign	2	202555483	202555483	Human	1	name
597678825	CV3709817	single nucleotide variant	NM_001204.7(BMPR2):c.172A>G (p.Ile58Val)	Inborn genetic diseases [RCV005311147]\|Pulmonary hypertension, primary, 1 [RCV005030779]	uncertain significance	2	202464904	202464904	Human	2	name
597678977	CV3709831	single nucleotide variant	NM_001204.7(BMPR2):c.1089G>T (p.Leu363=)	Pulmonary hypertension, primary, 1 [RCV005030795]	uncertain significance	2	202530915	202530915	Human	1	name
597678993	CV3709833	single nucleotide variant	NM_001204.7(BMPR2):c.1215C>T (p.Asp405=)	Inborn genetic diseases [RCV005303465]\|Pulmonary hypertension, primary, 1 [RCV005030797]	likely benign\|uncertain significance	2	202532671	202532671	Human	2	name
597679039	CV3709838	single nucleotide variant	NM_001204.7(BMPR2):c.1467G>A (p.Glu489=)	Pulmonary hypertension, primary, 1 [RCV005030802]	uncertain significance	2	202552769	202552769	Human	1	name
597761936	CV3709867	single nucleotide variant	NM_001204.7(BMPR2):c.2922T>G (p.Arg974=)	Pulmonary hypertension, primary, 1 [RCV005018436]	uncertain significance	2	202559751	202559751	Human	1	name
597939143	CV3788432	single nucleotide variant	NM_001204.7(BMPR2):c.136A>T (p.Ile46Leu)	Primary pulmonary hypertension [RCV005133107]	likely benign	2	202464868	202464868	Human	2	name
597950430	CV3797648	single nucleotide variant	NM_001204.7(BMPR2):c.121C>T (p.Gln41Ter)	Primary pulmonary hypertension [RCV005135640]	pathogenic	2	202464853	202464853	Human	2	name
597948700	CV3801224	deletion	NM_001204.7(BMPR2):c.418del (p.Ser140fs)	Primary pulmonary hypertension [RCV005135404]	pathogenic	2	202467689	202467689	Human	2	name
597836008	CV3828339	single nucleotide variant	NM_001204.7(BMPR2):c.2964C>G (p.Thr988=)	Inborn genetic diseases [RCV005311198]\|Primary pulmonary hypertension [RCV005171231]	likely benign	2	202559793	202559793	Human	3	name
597975733	CV3828669	single nucleotide variant	NM_001204.7(BMPR2):c.1239T>C (p.Tyr413=)	Inborn genetic diseases [RCV005303510]\|Primary pulmonary hypertension [RCV005169298]	likely benign	2	202532695	202532695	Human	3	name
597959935	CV3843501	single nucleotide variant	NM_001204.7(BMPR2):c.1629T>C (p.Tyr543=)	Primary pulmonary hypertension [RCV005192538]	benign	2	202555294	202555294	Human	2	name
597951828	CV3847475	single nucleotide variant	NM_001204.7(BMPR2):c.2574G>A (p.Leu858=)	Primary pulmonary hypertension [RCV005190457]	likely benign	2	202556239	202556239	Human	2	name
597937869	CV3852698	single nucleotide variant	NM_001204.7(BMPR2):c.2412C>T (p.Val804=)	Primary pulmonary hypertension [RCV005187097]	likely benign	2	202556077	202556077	Human	2	name
597938430	CV3852804	single nucleotide variant	NM_001204.7(BMPR2):c.2853C>T (p.Gly951=)	Primary pulmonary hypertension [RCV005187204]	likely benign	2	202556518	202556518	Human	2	name
597873034	CV3859191	single nucleotide variant	NM_001204.7(BMPR2):c.2346A>G (p.Lys782=)	Primary pulmonary hypertension [RCV005197780]	likely benign	2	202556011	202556011	Human	2	name
597937432	CV3862702	single nucleotide variant	NM_001204.7(BMPR2):c.2247G>A (p.Gln749=)	Primary pulmonary hypertension [RCV005207974]	likely benign	2	202555912	202555912	Human	2	name
598243412	CV3894892	single nucleotide variant	NM_001204.7(BMPR2):c.188G>A (p.Gly63Asp)	Pulmonary arterial hypertension [RCV005365534]	uncertain significance	2	202464920	202464920	Human	2	name
598249585	CV3945965	single nucleotide variant	NM_001204.7(BMPR2):c.1740G>T (p.Gly580=)	Inborn genetic diseases [RCV005298189]	likely benign	2	202555405	202555405	Human	1	name
598162226	CV3945967	single nucleotide variant	NM_001204.7(BMPR2):c.1440C>T (p.Ile480=)	Inborn genetic diseases [RCV005307166]	likely benign	2	202552742	202552742	Human	1	name
598249596	CV3945971	single nucleotide variant	NM_001204.7(BMPR2):c.2991C>T (p.Asp997=)	Inborn genetic diseases [RCV005298191]	likely benign	2	202559820	202559820	Human	1	name
598249618	CV3945976	single nucleotide variant	NM_001204.7(BMPR2):c.2853C>G (p.Gly951=)	Inborn genetic diseases [RCV005298195]	likely benign	2	202556518	202556518	Human	1	name
598249624	CV3945977	single nucleotide variant	NM_001204.7(BMPR2):c.1938A>G (p.Ala646=)	Inborn genetic diseases [RCV005298196]	likely benign	2	202555603	202555603	Human	1	name
598162241	CV3945978	single nucleotide variant	NM_001204.7(BMPR2):c.2934C>G (p.Pro978=)	Inborn genetic diseases [RCV005307170]	likely benign	2	202559763	202559763	Human	1	name
598162251	CV3945981	single nucleotide variant	NM_001204.7(BMPR2):c.1107A>G (p.Glu369=)	Inborn genetic diseases [RCV005307173]	likely benign	2	202530933	202530933	Human	1	name
598249658	CV3945989	single nucleotide variant	NM_001204.7(BMPR2):c.1284C>A (p.Ser428=)	Inborn genetic diseases [RCV005298202]	likely benign	2	202542318	202542318	Human	1	name
598249677	CV3945992	single nucleotide variant	NM_001204.7(BMPR2):c.2328G>A (p.Lys776=)	Inborn genetic diseases [RCV005298205]	likely benign	2	202555993	202555993	Human	1	name
598162261	CV3945994	single nucleotide variant	NM_001204.7(BMPR2):c.155C>T (p.Ser52Phe)	Inborn genetic diseases [RCV005307176]	uncertain significance	2	202464887	202464887	Human	1	name
598249697	CV3945998	single nucleotide variant	NM_001204.7(BMPR2):c.2361A>C (p.Gly787=)	Inborn genetic diseases [RCV005298209]	likely benign	2	202556026	202556026	Human	1	name
598249718	CV3946002	single nucleotide variant	NM_001204.7(BMPR2):c.2919A>G (p.Lys973=)	Inborn genetic diseases [RCV005298212]	likely benign	2	202559748	202559748	Human	1	name
598249736	CV3946006	single nucleotide variant	NM_001204.7(BMPR2):c.153C>G (p.Ile51Met)	Inborn genetic diseases [RCV005298216]	uncertain significance	2	202464885	202464885	Human	1	name
598249745	CV3946008	single nucleotide variant	NM_001204.7(BMPR2):c.1614A>G (p.Pro538=)	Inborn genetic diseases [RCV005298218]	likely benign	2	202555279	202555279	Human	1	name
598162280	CV3946012	single nucleotide variant	NM_001204.7(BMPR2):c.2790A>G (p.Ser930=)	Inborn genetic diseases [RCV005307180]	likely benign	2	202556455	202556455	Human	1	name
598162283	CV3946014	single nucleotide variant	NM_001204.7(BMPR2):c.224G>C (p.Gly75Ala)	Inborn genetic diseases [RCV005307181]	uncertain significance	2	202464956	202464956	Human	1	name
598249772	CV3946015	single nucleotide variant	NM_001204.7(BMPR2):c.2235C>G (p.Leu745=)	Inborn genetic diseases [RCV005298222]	likely benign	2	202555900	202555900	Human	1	name
598249787	CV3946021	single nucleotide variant	NM_001204.7(BMPR2):c.1662C>T (p.Asp554=)	Inborn genetic diseases [RCV005298225]	likely benign	2	202555327	202555327	Human	1	name
598249850	CV3946034	single nucleotide variant	NM_001204.7(BMPR2):c.2493A>C (p.Leu831=)	Inborn genetic diseases [RCV005298236]	likely benign	2	202556158	202556158	Human	1	name
598162313	CV3946039	single nucleotide variant	NM_001204.7(BMPR2):c.2298A>G (p.Thr766=)	Inborn genetic diseases [RCV005307189]	likely benign	2	202555963	202555963	Human	1	name
598249873	CV3946041	single nucleotide variant	NM_001204.7(BMPR2):c.134G>C (p.Gly45Ala)	Inborn genetic diseases [RCV005298240]	uncertain significance	2	202464866	202464866	Human	1	name
598249878	CV3946044	single nucleotide variant	NM_001204.7(BMPR2):c.1830C>G (p.Thr610=)	Inborn genetic diseases [RCV005298241]	likely benign	2	202555495	202555495	Human	1	name
598249899	CV3946050	single nucleotide variant	NM_001204.7(BMPR2):c.2061G>A (p.Glu687=)	Inborn genetic diseases [RCV005298245]	likely benign	2	202555726	202555726	Human	1	name
598249910	CV3946053	single nucleotide variant	NM_001204.7(BMPR2):c.2394A>G (p.Glu798=)	Inborn genetic diseases [RCV005298247]	likely benign	2	202556059	202556059	Human	1	name
598249918	CV3946057	single nucleotide variant	NM_001204.7(BMPR2):c.1701C>T (p.Ser567=)	Inborn genetic diseases [RCV005298249]	likely benign	2	202555366	202555366	Human	1	name
598249923	CV3946058	single nucleotide variant	NM_001204.7(BMPR2):c.233A>G (p.Asn78Ser)	Inborn genetic diseases [RCV005298250]	uncertain significance	2	202464965	202464965	Human	1	name
598162347	CV3946062	single nucleotide variant	NM_001204.7(BMPR2):c.1956C>A (p.Thr652=)	Inborn genetic diseases [RCV005307198]	likely benign	2	202555621	202555621	Human	1	name
598162351	CV3946063	single nucleotide variant	NM_001204.7(BMPR2):c.1311G>A (p.Gln437=)	Inborn genetic diseases [RCV005307199]	likely benign	2	202542345	202542345	Human	1	name
598162357	CV3946065	single nucleotide variant	NM_001204.7(BMPR2):c.1740G>C (p.Gly580=)	Inborn genetic diseases [RCV005307201]	likely benign	2	202555405	202555405	Human	1	name
598249941	CV3946068	single nucleotide variant	NM_001204.7(BMPR2):c.2361A>G (p.Gly787=)	Inborn genetic diseases [RCV005298254]	likely benign	2	202556026	202556026	Human	1	name
598162365	CV3946070	single nucleotide variant	NM_001204.7(BMPR2):c.1296C>T (p.Tyr432=)	Inborn genetic diseases [RCV005307203]	likely benign	2	202542330	202542330	Human	1	name
598249955	CV3946072	single nucleotide variant	NM_001204.7(BMPR2):c.1332C>T (p.Pro444=)	Inborn genetic diseases [RCV005298257]	likely benign	2	202542366	202542366	Human	1	name
598249961	CV3946073	single nucleotide variant	NM_001204.7(BMPR2):c.2193A>G (p.Ala731=)	Inborn genetic diseases [RCV005298258]	likely benign	2	202555858	202555858	Human	1	name
598249976	CV3946077	single nucleotide variant	NM_001204.7(BMPR2):c.2847G>A (p.Leu949=)	Inborn genetic diseases [RCV005298261]	likely benign	2	202556512	202556512	Human	1	name
598162372	CV3946079	single nucleotide variant	NM_001204.7(BMPR2):c.2568C>G (p.Thr856=)	Inborn genetic diseases [RCV005307205]	likely benign	2	202556233	202556233	Human	1	name
598162394	CV3946088	single nucleotide variant	NM_001204.7(BMPR2):c.1521T>A (p.Ile507=)	Inborn genetic diseases [RCV005307211]	likely benign	2	202552823	202552823	Human	1	name
598250079	CV3946105	single nucleotide variant	NM_001204.7(BMPR2):c.1086A>G (p.Arg362=)	Inborn genetic diseases [RCV005298279]	likely benign	2	202530912	202530912	Human	1	name
598250085	CV3946106	single nucleotide variant	NM_001204.7(BMPR2):c.1863G>C (p.Thr621=)	Inborn genetic diseases [RCV005298280]	likely benign	2	202555528	202555528	Human	1	name
598250096	CV3946110	single nucleotide variant	NM_001204.7(BMPR2):c.2727A>G (p.Pro909=)	Inborn genetic diseases [RCV005298282]	likely benign	2	202556392	202556392	Human	1	name
598162435	CV3946115	single nucleotide variant	NM_001204.7(BMPR2):c.1987T>C (p.Leu663=)	Inborn genetic diseases [RCV005307221]	likely benign	2	202555652	202555652	Human	1	name
598250119	CV3946119	single nucleotide variant	NM_001204.7(BMPR2):c.1197A>G (p.Ser399=)	Inborn genetic diseases [RCV005298286]	likely benign	2	202532653	202532653	Human	1	name
598250136	CV3946123	single nucleotide variant	NM_001204.7(BMPR2):c.283C>T (p.His95Tyr)	Inborn genetic diseases [RCV005298289]	uncertain significance	2	202467554	202467554	Human	1	name
598250151	CV3946131	single nucleotide variant	NM_001204.7(BMPR2):c.1044T>G (p.Val348=)	Inborn genetic diseases [RCV005298292]	likely benign	2	202530870	202530870	Human	1	name
598250161	CV3946133	single nucleotide variant	NM_001204.7(BMPR2):c.1632A>G (p.Pro544=)	Inborn genetic diseases [RCV005298294]	likely benign	2	202555297	202555297	Human	1	name
598162470	CV3946138	single nucleotide variant	NM_001204.7(BMPR2):c.2550G>A (p.Gln850=)	Inborn genetic diseases [RCV005307230]	likely benign	2	202556215	202556215	Human	1	name
598250177	CV3946139	single nucleotide variant	NM_001204.7(BMPR2):c.1803T>C (p.Pro601=)	Inborn genetic diseases [RCV005298297]	likely benign	2	202555468	202555468	Human	1	name
598250187	CV3946141	single nucleotide variant	NM_001204.7(BMPR2):c.1977A>C (p.Thr659=)	Inborn genetic diseases [RCV005298299]	likely benign	2	202555642	202555642	Human	1	name
598250194	CV3946142	single nucleotide variant	NM_001204.7(BMPR2):c.1263A>G (p.Thr421=)	Inborn genetic diseases [RCV005298300]	likely benign	2	202532719	202532719	Human	1	name
598250201	CV3946143	single nucleotide variant	NM_001204.7(BMPR2):c.151A>G (p.Ile51Val)	Inborn genetic diseases [RCV005298301]	uncertain significance	2	202464883	202464883	Human	1	name
598162487	CV3946151	single nucleotide variant	NM_001204.7(BMPR2):c.1821C>T (p.Ser607=)	Inborn genetic diseases [RCV005307234]	likely benign	2	202555486	202555486	Human	1	name
598250262	CV3946161	single nucleotide variant	NM_001204.7(BMPR2):c.1992A>G (p.Glu664=)	Inborn genetic diseases [RCV005298313]	likely benign	2	202555657	202555657	Human	1	name
598162508	CV3946170	single nucleotide variant	NM_001204.7(BMPR2):c.2526G>A (p.Arg842=)	Inborn genetic diseases [RCV005307239]	likely benign	2	202556191	202556191	Human	1	name
598162511	CV3946175	single nucleotide variant	NM_001204.7(BMPR2):c.2145A>C (p.Val715=)	Inborn genetic diseases [RCV005307240]	likely benign	2	202555810	202555810	Human	1	name
598162514	CV3946176	single nucleotide variant	NM_001204.7(BMPR2):c.2511C>T (p.Asn837=)	Inborn genetic diseases [RCV005307241]	likely benign	2	202556176	202556176	Human	1	name
598250326	CV3946177	single nucleotide variant	NM_001204.7(BMPR2):c.271C>A (p.Pro91Thr)	Inborn genetic diseases [RCV005298324]	uncertain significance	2	202467542	202467542	Human	1	name
598250332	CV3946178	single nucleotide variant	NM_001204.7(BMPR2):c.2304G>A (p.Glu768=)	Inborn genetic diseases [RCV005298325]	likely benign	2	202555969	202555969	Human	1	name
12905169	CV414072	deletion	NM_001204.7(BMPR2):c.16_20del (p.Gln6fs)	Pulmonary hypertension, primary, 1 [RCV000488541]	pathogenic	2	202377489	202377493	Human	1	name
12905267	CV414090	single nucleotide variant	NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg)	Pulmonary arterial hypertension [RCV001003649]\|Pulmonary hypertension, primary, 1 [RCV000488668]	pathogenic	2	202464832	202464832	Human	3	name
12905334	CV414093	single nucleotide variant	NM_001204.7(BMPR2):c.124C>T (p.Gln42Ter)	Pulmonary hypertension, primary, 1 [RCV000488756]	pathogenic	2	202464856	202464856	Human	1	name
12905106	CV414094	single nucleotide variant	NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)	Pulmonary arterial hypertension [RCV005051782]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000488460]	pathogenic\|uncertain significance	2	202464857	202464857	Human	2	name
12905211	CV414095	single nucleotide variant	NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp)	Pulmonary arterial hypertension [RCV005051783]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000488593]	pathogenic\|uncertain significance	2	202464872	202464872	Human	2	name
12905255	CV414098	single nucleotide variant	NM_001204.7(BMPR2):c.178T>C (p.Cys60Arg)	Pulmonary hypertension, primary, 1 [RCV000488650]	pathogenic	2	202464910	202464910	Human	1	name
12905377	CV414099	single nucleotide variant	NM_001204.7(BMPR2):c.178T>G (p.Cys60Gly)	Pulmonary hypertension, primary, 1 [RCV000488815]	pathogenic	2	202464910	202464910	Human	1	name
12905138	CV414100	single nucleotide variant	NM_001204.7(BMPR2):c.179G>A (p.Cys60Tyr)	Pulmonary hypertension, primary, 1 [RCV000488506]	pathogenic	2	202464911	202464911	Human	1	name
12905289	CV414104	single nucleotide variant	NM_001204.7(BMPR2):c.196T>C (p.Cys66Arg)	Pulmonary hypertension, primary, 1 [RCV000488696]	pathogenic	2	202464928	202464928	Human	1	name
12905358	CV414105	single nucleotide variant	NM_001204.7(BMPR2):c.196T>G (p.Cys66Gly)	Pulmonary hypertension, primary, 1 [RCV000488793]	pathogenic	2	202464928	202464928	Human	1	name
12905163	CV414106	single nucleotide variant	NM_001204.7(BMPR2):c.197G>A (p.Cys66Tyr)	Pulmonary hypertension, primary, 1 [RCV000488535]	pathogenic	2	202464929	202464929	Human	1	name
12905263	CV414107	single nucleotide variant	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	Primary pulmonary hypertension [RCV001383602]\|Pulmonary arterial hypertension [RCV001003651]\|Pulmonary arterial hypertension [RCV001823909]\|Pulmonary hypertension, primary, 1 [RCV000488664]	pathogenic\|not provided	2	202464932	202464932	Human	4	name
12905385	CV414108	duplication	NM_001204.7(BMPR2):c.200dup (p.Tyr67Ter)	Pulmonary hypertension, primary, 1 [RCV000488827]	pathogenic	2	202464931	202464932	Human	1	name
12905150	CV414109	single nucleotide variant	NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter)	Primary pulmonary hypertension [RCV001376584]\|Pulmonary hypertension, primary, 1 [RCV000488520]	pathogenic	2	202464933	202464933	Human	3	name
12905292	CV414110	single nucleotide variant	NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp)	Pulmonary arterial hypertension [RCV001003652]\|Pulmonary hypertension, primary, 1 [RCV000488700]	pathogenic	2	202464935	202464935	Human	3	name
12905383	CV414113	single nucleotide variant	NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter)	Pulmonary arterial hypertension [RCV001003654]\|Pulmonary hypertension, primary, 1 [RCV000488823]	pathogenic	2	202464976	202464976	Human	3	name
12905217	CV414114	single nucleotide variant	NM_001204.7(BMPR2):c.246A>C (p.Gln82His)	Pulmonary hypertension, primary, dexfenfluramine-associated [RCV000488601]	pathogenic	2	202464978	202464978	Human	1	name
12905137	CV414116	single nucleotide variant	NM_001204.7(BMPR2):c.247G>A (p.Gly83Arg)	Pulmonary hypertension, primary, 1 [RCV000488505]	pathogenic	2	202464979	202464979	Human	1	name
12905152	CV414126	single nucleotide variant	NM_001204.7(BMPR2):c.248G>A (p.Gly83Glu)	Pulmonary hypertension, primary, 1 [RCV000488523]	pathogenic	2	202467519	202467519	Human	1	name
12905298	CV414127	single nucleotide variant	NM_001204.7(BMPR2):c.250T>C (p.Cys84Arg)	Pulmonary hypertension, primary, 1 [RCV000488708]	pathogenic	2	202467521	202467521	Human	1	name
12905391	CV414128	single nucleotide variant	NM_001204.7(BMPR2):c.250T>G (p.Cys84Gly)	Pulmonary hypertension, primary, 1 [RCV000488833]	pathogenic	2	202467521	202467521	Human	1	name
12905224	CV414129	single nucleotide variant	NM_001204.7(BMPR2):c.251G>T (p.Cys84Phe)	Pulmonary hypertension, primary, 1 [RCV000488611]	pathogenic	2	202467522	202467522	Human	1	name
12905323	CV414130	single nucleotide variant	NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter)	Pulmonary arterial hypertension [RCV001823910]\|Pulmonary hypertension, primary, 1 [RCV000488742]	pathogenic\|not provided	2	202467526	202467526	Human	3	name
12905184	CV414132	single nucleotide variant	NM_001204.7(BMPR2):c.266G>C (p.Gly89Ala)	Pulmonary hypertension, primary, 1 [RCV000488561]	uncertain significance	2	202467537	202467537	Human	1	name
12905329	CV414133	single nucleotide variant	NM_001204.7(BMPR2):c.274C>T (p.Gln92Ter)	Pulmonary hypertension, primary, 1 [RCV000488751]	pathogenic	2	202467545	202467545	Human	1	name
12905316	CV414135	single nucleotide variant	NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg)	Pulmonary arterial hypertension [RCV001003658]\|Pulmonary hypertension, primary, 1 [RCV000488733]	pathogenic	2	202467551	202467551	Human	3	name
12905129	CV414136	single nucleotide variant	NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly)	Pulmonary arterial hypertension [RCV001003659]\|Pulmonary hypertension, primary, 1 [RCV000488494]	pathogenic	2	202467551	202467551	Human	3	name
12905232	CV414137	single nucleotide variant	NM_001204.7(BMPR2):c.292G>A (p.Glu98Lys)	Pulmonary hypertension, primary, 1 [RCV000488620]	uncertain significance	2	202467563	202467563	Human	1	name
12905370	CV414138	single nucleotide variant	NM_001204.7(BMPR2):c.292G>T (p.Glu98Ter)	Pulmonary hypertension, primary, 1 [RCV000488808]	pathogenic	2	202467563	202467563	Human	1	name
12905237	CV414139	single nucleotide variant	NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr)	Primary pulmonary hypertension [RCV001376614]\|Pulmonary hypertension, primary, 1 [RCV000488629]	pathogenic	2	202467567	202467567	Human	3	name
12905362	CV414140	single nucleotide variant	NM_001204.7(BMPR2):c.296G>T (p.Cys99Phe)	Pulmonary hypertension, primary, 1 [RCV000488799]	pathogenic	2	202467567	202467567	Human	1	name
12905321	CV414154	deletion	NM_001204.7(BMPR2):c.353del (p.Cys118fs)	Pulmonary hypertension, primary, 1 [RCV000488740]	pathogenic	2	202467624	202467624	Human	1	name
12905378	CV414155	deletion	NM_001204.7(BMPR2):c.355del (p.Ser119fs)	Pulmonary hypertension, primary, 1 [RCV000488816]	pathogenic	2	202467626	202467626	Human	1	name
12905165	CV414158	duplication	NM_001204.7(BMPR2):c.371dup (p.Asn124fs)	Pulmonary arterial hypertension [RCV001003666]\|Pulmonary hypertension, primary, 1 [RCV000488537]	pathogenic	2	202467640	202467641	Human	3	name
12905357	CV414159	deletion	NM_001204.7(BMPR2):c.399del (p.Pro134fs)	Pulmonary arterial hypertension [RCV001003668]\|Pulmonary hypertension, primary, 1 [RCV000488792]	pathogenic	2	202467670	202467670	Human	3	name
12905226	CV414169	deletion	NM_001204.7(BMPR2):c.435del (p.Phe145fs)	Pulmonary hypertension, primary, 1 [RCV000488613]	pathogenic	2	202513733	202513733	Human	1	name
12905151	CV414170	duplication	NM_001204.7(BMPR2):c.449dup (p.Ile151fs)	Pulmonary arterial hypertension [RCV001003674]\|Pulmonary hypertension, primary, 1 [RCV000488521]	pathogenic	2	202513748	202513749	Human	3	name
12905154	CV414173	deletion	NM_001204.7(BMPR2):c.498del (p.Ala167fs)	Pulmonary hypertension, primary, 1 [RCV000488525]	pathogenic	2	202513797	202513797	Human	1	name
12905299	CV414174	duplication	NM_001204.7(BMPR2):c.503dup (p.Leu168fs)	Pulmonary hypertension, primary, 1 [RCV000488709]	pathogenic	2	202513801	202513802	Human	1	name
12905392	CV414176	deletion	NM_001204.7(BMPR2):c.528del (p.Gly177fs)	Pulmonary hypertension, primary, 1 [RCV000488834]	pathogenic	2	202513828	202513828	Human	1	name
12905336	CV414182	deletion	NM_001204.7(BMPR2):c.612del (p.Lys204fs)	Pulmonary arterial hypertension [RCV001003678]\|Pulmonary hypertension, primary, 1 [RCV000488758]	pathogenic	2	202514968	202514968	Human	3	name
12905180	CV414184	duplication	NM_001204.7(BMPR2):c.659dup (p.Ser221fs)	Pulmonary hypertension, primary, 1 [RCV000488556]	pathogenic	2	202518857	202518858	Human	1	name
12905188	CV414193	deletion	NM_001204.7(BMPR2):c.775del (p.Arg259fs)	Pulmonary hypertension, primary, 1 [RCV000488565]	pathogenic	2	202518973	202518973	Human	1	name
12905132	CV414195	duplication	NM_001204.7(BMPR2):c.786dup (p.Gly263fs)	Pulmonary hypertension, primary, 1 [RCV000488498]	pathogenic	2	202518984	202518985	Human	1	name
12905195	CV414196	deletion	NM_001204.7(BMPR2):c.790del (p.Asp264fs)	Pulmonary hypertension, primary, 1 [RCV000488573]	pathogenic	2	202518990	202518990	Human	1	name
12905139	CV414200	duplication	NM_001204.7(BMPR2):c.802dup (p.Thr268fs)	Pulmonary hypertension, primary, 1 [RCV000488507]	pathogenic	2	202519001	202519002	Human	1	name
12905242	CV414201	deletion	NM_001204.7(BMPR2):c.804del (p.Ala269fs)	Pulmonary hypertension, primary, 1 [RCV000488634]	pathogenic	2	202519004	202519004	Human	1	name
12905274	CV414208	deletion	NM_001204.7(BMPR2):c.855del (p.Ser286fs)	Pulmonary hypertension, primary, 1 [RCV000488678]	pathogenic	2	202520089	202520089	Human	1	name
12905168	CV414219	deletion	NM_001204.7(BMPR2):c.961del (p.Arg321fs)	Primary pulmonary hypertension [RCV001856889]\|Pulmonary hypertension, primary, 1 [RCV000488540]	pathogenic	2	202520195	202520195	Human	3	name
12905186	CV414227	duplication	NM_001204.7(BMPR2):c.969dup (p.His324fs)	Primary pulmonary hypertension [RCV001851299]\|Pulmonary hypertension, primary, 1 [RCV000488563]	pathogenic	2	202530794	202530795	Human	3	name
12905328	CV414228	deletion	NM_001204.7(BMPR2):c.980del (p.Pro327fs)	Pulmonary hypertension, primary, 1 [RCV000488750]	pathogenic	2	202530805	202530805	Human	1	name
13500783	CV450267	single nucleotide variant	NM_001204.7(BMPR2):c.1914A>G (p.Thr638=)	Inborn genetic diseases [RCV004601196]\|Primary pulmonary hypertension [RCV002231275]	likely benign	2	202555579	202555579	Human	3	name
13616434	CV517648	single nucleotide variant	NM_001204.7(BMPR2):c.1284C>G (p.Ser428=)	Primary pulmonary hypertension [RCV002233954]	likely benign	2	202542318	202542318	Human	2	name
13704062	CV539168	single nucleotide variant	NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys)	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664171]	uncertain significance	2	202464943	202464943	Human	1	name
14393507	CV609468	single nucleotide variant	NM_001204.7(BMPR2):c.199T>C (p.Tyr67His)	not provided [RCV000755850]	uncertain significance	2	202464931	202464931	Human		name
15130289	CV683474	single nucleotide variant	NM_001204.7(BMPR2):c.1104G>A (p.Glu368=)	Inborn genetic diseases [RCV004962876]\|Primary pulmonary hypertension [RCV001432211]	likely benign	2	202530930	202530930	Human	3	name
15136400	CV686119	single nucleotide variant	NM_001204.7(BMPR2):c.230T>C (p.Ile77Thr)	BMPR2-related disorder [RCV004549938]\|Inborn genetic diseases [RCV004962879]\|Primary pulmonary hypertension [RCV000864486]	likely benign\|uncertain significance	2	202464962	202464962	Human	4	name , alternate_id
15144902	CV686120	single nucleotide variant	NM_001204.7(BMPR2):c.1032T>C (p.Asp344=)	Inborn genetic diseases [RCV004962882]\|Primary pulmonary hypertension [RCV000865991]	likely benign	2	202530858	202530858	Human	3	name
15140343	CV686121	single nucleotide variant	NM_001204.7(BMPR2):c.2961C>T (p.Ser987=)	Inborn genetic diseases [RCV002434086]\|Primary pulmonary hypertension [RCV000865164]	likely benign	2	202559790	202559790	Human	3	name
15106059	CV691013	single nucleotide variant	NM_001204.7(BMPR2):c.1278G>A (p.Gly426=)	Inborn genetic diseases [RCV004962892]\|Primary pulmonary hypertension [RCV001413904]	likely benign	2	202542312	202542312	Human	3	name
15138661	CV691014	single nucleotide variant	NM_001204.7(BMPR2):c.1545C>T (p.Ser515=)	Pulmonary hypertension, primary, 1 [RCV001142357]\|not provided [RCV000877194]	likely benign	2	202552847	202552847	Human	1	name
15102939	CV762790	single nucleotide variant	NM_001204.7(BMPR2):c.2721C>T (p.Ser907=)	Inborn genetic diseases [RCV004962958]\|Primary pulmonary hypertension [RCV001424314]	likely benign	2	202556386	202556386	Human	3	name
15193008	CV762791	single nucleotide variant	NM_001204.7(BMPR2):c.2886T>C (p.Asp962=)	Primary pulmonary hypertension [RCV001425681]	likely benign	2	202559715	202559715	Human	2	name
15146482	CV781110	single nucleotide variant	NM_001204.7(BMPR2):c.220A>G (p.Lys74Glu)	Inborn genetic diseases [RCV002427435]\|Primary pulmonary hypertension [RCV000983865]\|Pulmonary arterial hypertension [RCV004720286]	likely benign\|uncertain significance	2	202464952	202464952	Human	4	name
15119245	CV781111	single nucleotide variant	NM_001204.7(BMPR2):c.1899A>G (p.Pro633=)	Primary pulmonary hypertension [RCV001410502]	likely benign	2	202555564	202555564	Human	2	name
21405126	CV801001	deletion	NM_001204.7(BMPR2):c.26_41del (p.Trp9fs)	Pulmonary arterial hypertension [RCV001004024]	pathogenic	2	202377498	202377513	Human	2	name
21404971	CV801006	deletion	NM_001204.7(BMPR2):c.247+804_418+3005del	Pulmonary arterial hypertension [RCV001003878]	likely pathogenic	2	202465781	202470692	Human	2	name
21404696	CV801007	single nucleotide variant	NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr)	Pulmonary arterial hypertension [RCV001003656]\|Pulmonary arterial hypertension [RCV001823932]	pathogenic\|not provided	2	202467522	202467522	Human	2	name
21404700	CV801009	single nucleotide variant	NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter)	Pulmonary arterial hypertension [RCV001003660]	pathogenic	2	202467559	202467559	Human	2	name
21404702	CV801010	deletion	NM_001204.7(BMPR2):c.314del (p.Pro105fs)	Pulmonary arterial hypertension [RCV001003661]	pathogenic	2	202467584	202467584	Human	2	name
21404704	CV801011	duplication	NM_001204.7(BMPR2):c.344dup (p.Cys116fs)	Pulmonary arterial hypertension [RCV001003662]	pathogenic	2	202467612	202467613	Human	2	name
21404718	CV801019	duplication	NM_001204.7(BMPR2):c.619dup (p.Glu207fs)	Pulmonary arterial hypertension [RCV001003679]	pathogenic	2	202514975	202514976	Human	2	name
21404977	CV801020	deletion	NM_001204.7(BMPR2):c.621+428_967+3995del	Pulmonary arterial hypertension [RCV001003882]	likely pathogenic	2	202515407	202524196	Human	2	name
21404725	CV801021	deletion	NM_001204.7(BMPR2):c.657del (p.Gly220fs)	Pulmonary arterial hypertension [RCV001003685]	pathogenic	2	202518855	202518855	Human	2	name
21404726	CV801022	deletion	NM_001204.7(BMPR2):c.683del (p.Ala228fs)	Pulmonary arterial hypertension [RCV001003686]	pathogenic	2	202518883	202518883	Human	2	name
21404730	CV801024	deletion	NM_001204.7(BMPR2):c.691del (p.Val231fs)	Pulmonary arterial hypertension [RCV001003688]	pathogenic	2	202518891	202518891	Human	2	name
21404735	CV801027	duplication	NM_001204.7(BMPR2):c.823dup (p.Tyr275fs)	Pulmonary arterial hypertension [RCV001003692]	pathogenic	2	202519022	202519023	Human	2	name
21404978	CV801259	deletion	NM_001204.7(BMPR2):c.852+316_967+2958del	Pulmonary arterial hypertension [RCV001003883]	likely pathogenic	2	202519365	202523156	Human	2	name
26913165	CV825602	single nucleotide variant	NM_001204.7(BMPR2):c.179G>T (p.Cys60Phe)	Pulmonary hypertension, primary, 1 [RCV001035315]	uncertain significance	2	202464911	202464911	Human	1	name
26914490	CV825603	deletion	NM_001204.7(BMPR2):c.443del (p.Asp148fs)	Primary pulmonary hypertension [RCV001037606]	pathogenic	2	202513743	202513743	Human	2	name
8630140	CV85287	single nucleotide variant	NM_001204.6(BMPR2):c.2433T>G (p.Gly811=)	Malignant melanoma [RCV000065369]	not provided	2	202556098	202556098	Human		name
28894445	CV883371	single nucleotide variant	NM_001204.7(BMPR2):c.1284C>T (p.Ser428=)	Inborn genetic diseases [RCV003163311]\|Primary pulmonary hypertension [RCV002070680]\|Pulmonary arterial hypertension [RCV004548018]\|Pulmonary hypertension, primary, 1 [RCV001140513]	likely benign\|uncertain significance	2	202542318	202542318	Human	5	name
28899448	CV883373	single nucleotide variant	NM_001204.7(BMPR2):c.1512T>G (p.Leu504=)	Primary pulmonary hypertension [RCV002070707]\|Pulmonary arterial hypertension [RCV004548022]\|Pulmonary hypertension, primary, 1 [RCV001142356]	likely benign\|uncertain significance	2	202552814	202552814	Human	4	name
28899454	CV883376	single nucleotide variant	NM_001204.7(BMPR2):c.1611G>A (p.Val537=)	Pulmonary hypertension, primary, 1 [RCV001142360]	uncertain significance	2	202555276	202555276	Human	1	name
28899457	CV883377	single nucleotide variant	NM_001204.7(BMPR2):c.1677T>A (p.Thr559=)	Inborn genetic diseases [RCV002402512]\|Pulmonary hypertension, primary, 1 [RCV001142361]\|Pulmonary hypertension, primary, 1 [RCV005029712]	likely benign\|uncertain significance	2	202555342	202555342	Human	2	name
28899459	CV883378	single nucleotide variant	NM_001204.7(BMPR2):c.1698T>A (p.Ile566=)	Inborn genetic diseases [RCV004963149]\|Primary pulmonary hypertension [RCV001409855]\|Pulmonary arterial hypertension [RCV004548024]\|Pulmonary hypertension, primary, 1 [RCV001142362]	likely benign\|uncertain significance	2	202555363	202555363	Human	5	name
41405243	CV981386	single nucleotide variant	NM_001204.7(BMPR2):c.1659A>G (p.Glu553=)	not provided [RCV001812484]	likely benign	2	202555324	202555324	Human		name
126908617	CV1040995	single nucleotide variant	NM_001204.7(BMPR2):c.335C>A (p.Thr112Lys)	Primary pulmonary hypertension [RCV001365525]	uncertain significance	2	202467606	202467606	Human	2	name
127249750	CV1059132	single nucleotide variant	NM_001204.7(BMPR2):c.610A>T (p.Lys204Ter)	Primary pulmonary hypertension [RCV001385173]	pathogenic	2	202514968	202514968	Human	2	name
127255380	CV1059136	deletion	NM_001204.7(BMPR2):c.1206del (p.Lys402fs)	Primary pulmonary hypertension [RCV001386337]	pathogenic	2	202532660	202532660	Human	2	name
127265985	CV1059137	duplication	NM_001204.7(BMPR2):c.1748dup (p.Asn583fs)	Primary pulmonary hypertension [RCV001381588]\|Pulmonary arterial hypertension [RCV001823942]	pathogenic\|not provided	2	202555406	202555407	Human	3	name
127331849	CV1133040	single nucleotide variant	NM_001204.7(BMPR2):c.3039C>T (p.Ser1013=)	Inborn genetic diseases [RCV005308474]\|Primary pulmonary hypertension [RCV001489092]	likely benign	2	202559868	202559868	Human	3	name
150425392	CV1183090	deletion	NM_001204.7(BMPR2):c.1091del (p.Val364fs)	not provided [RCV001557935]	pathogenic	2	202530917	202530917	Human		name
151662537	CV1330418	deletion	NM_001204.7(BMPR2):c.2268del (p.Ser757fs)	Pulmonary arterial hypertension [RCV001823955]	not provided	2	202555933	202555933	Human		name
151662539	CV1330419	duplication	NM_001204.7(BMPR2):c.2396dup (p.His800fs)	Pulmonary arterial hypertension [RCV001823956]	not provided	2	202556059	202556060	Human		name
151662548	CV1330423	deletion	NM_001204.7(BMPR2):c.2952del (p.Trp984fs)	Pulmonary arterial hypertension [RCV001823960]	not provided	2	202559780	202559780	Human		name
151662574	CV1330441	single nucleotide variant	NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys)	Pulmonary arterial hypertension [RCV001823978]\|Pulmonary hypertension, primary, 1 [RCV005023268]	uncertain significance\|not provided	2	202518975	202518975	Human	3	name
151662586	CV1330449	single nucleotide variant	NM_001204.7(BMPR2):c.935T>C (p.Leu312Pro)	Pulmonary arterial hypertension [RCV001823986]	not provided	2	202520169	202520169	Human		name
151662588	CV1330451	single nucleotide variant	NM_001204.7(BMPR2):c.947A>G (p.His316Arg)	Pulmonary arterial hypertension [RCV001823988]\|Pulmonary hypertension, primary, 1 [RCV005023269]	uncertain significance\|not provided	2	202520181	202520181	Human	3	name
151662589	CV1330452	single nucleotide variant	NM_001204.7(BMPR2):c.967G>A (p.Asp323Asn)	Pulmonary arterial hypertension [RCV001823989]	not provided	2	202520201	202520201	Human		name
151662592	CV1330455	single nucleotide variant	NM_001204.7(BMPR2):c.995G>C (p.Arg332Pro)	Pulmonary arterial hypertension [RCV001823992]	not provided	2	202530821	202530821	Human		name
151662610	CV1330473	deletion	NM_001204.7(BMPR2):c.1958del (p.Pro653fs)	Pulmonary arterial hypertension [RCV001824010]	not provided	2	202555620	202555620	Human		name
151662611	CV1330474	duplication	NM_001204.7(BMPR2):c.2073dup (p.Gln692fs)	Pulmonary arterial hypertension [RCV001824011]	not provided	2	202555735	202555736	Human		name
151713411	CV1334504	single nucleotide variant	NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter)	Pulmonary arterial hypertension [RCV001842230]	likely pathogenic	2	202514975	202514975	Human	2	name
151767816	CV1348764	single nucleotide variant	NM_001204.7(BMPR2):c.343T>C (p.Phe115Leu)	Primary pulmonary hypertension [RCV001896037]	uncertain significance	2	202467614	202467614	Human	2	name
151884038	CV1366575	single nucleotide variant	NM_001204.7(BMPR2):c.320C>A (p.Ser107Ter)	Primary pulmonary hypertension [RCV001941639]	pathogenic	2	202467591	202467591	Human	2	name
151815396	CV1406432	duplication	NM_001204.7(BMPR2):c.1028dup (p.Asn343fs)	Primary pulmonary hypertension [RCV001975191]	pathogenic	2	202530849	202530850	Human	2	name
151839538	CV1415234	duplication	NM_001204.7(BMPR2):c.1332dup (p.Thr445fs)	Primary pulmonary hypertension [RCV001921367]	pathogenic	2	202542363	202542364	Human	2	name
151774368	CV1440069	single nucleotide variant	NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter)	Primary pulmonary hypertension [RCV001874756]	pathogenic	2	202520128	202520128	Human	2	name
151738512	CV1458305	deletion	NM_001204.7(BMPR2):c.1175del (p.Val392fs)	Primary pulmonary hypertension [RCV001946863]	pathogenic	2	202532631	202532631	Human	2	name
151713994	CV1473342	single nucleotide variant	NM_001204.7(BMPR2):c.983C>T (p.Ala328Val)	Primary pulmonary hypertension [RCV001889958]\|Pulmonary hypertension, primary, 1 [RCV002482613]	uncertain significance	2	202530809	202530809	Human	3	name
151770686	CV1483219	deletion	NM_001204.7(BMPR2):c.1069del (p.Arg357fs)	Primary pulmonary hypertension [RCV001914949]	pathogenic	2	202530895	202530895	Human	2	name
155266061	CV1704939	deletion	NM_001204.7(BMPR2):c.1169del (p.Gly390fs)	Primary pulmonary hypertension [RCV003597424]\|Pulmonary arterial hypertension [RCV002285237]\|Pulmonary hypertension, primary, 1 [RCV005025764]	pathogenic\|likely pathogenic	2	202532624	202532624	Human	4	name
155266073	CV1704945	deletion	NM_001204.7(BMPR2):c.1644del (p.Ser549fs)	Pulmonary arterial hypertension [RCV002285243]	pathogenic	2	202555308	202555308	Human	2	name
155715506	CV1784947	single nucleotide variant	NM_001204.7(BMPR2):c.3090T>C (p.Ser1030=)	Inborn genetic diseases [RCV002325807]\|Primary pulmonary hypertension [RCV003102306]	likely benign	2	202559919	202559919	Human	3	name
155729307	CV1823500	single nucleotide variant	NM_001204.7(BMPR2):c.770T>C (p.Ile257Thr)	Inborn genetic diseases [RCV002400640]	uncertain significance	2	202518970	202518970	Human	1	name
155965730	CV1892033	deletion	NM_001204.7(BMPR2):c.1605del (p.Arg535fs)	Primary pulmonary hypertension [RCV003074921]	pathogenic	2	202555269	202555269	Human	2	name
156446605	CV1947949	deletion	NM_001204.7(BMPR2):c.2625del (p.Gln875fs)	Primary pulmonary hypertension [RCV003118116]	pathogenic	2	202556289	202556289	Human	2	name
156159861	CV1977745	deletion	NM_001204.7(BMPR2):c.1549del (p.Thr517fs)	Primary pulmonary hypertension [RCV002594427]	pathogenic	2	202552850	202552850	Human	2	name
155947528	CV2068911	deletion	NM_001204.7(BMPR2):c.1922del (p.His641fs)	Primary pulmonary hypertension [RCV002862162]	pathogenic	2	202555587	202555587	Human	2	name
10410623	CV209585	single nucleotide variant	NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)	Primary pulmonary hypertension [RCV001376542]\|Pulmonary arterial hypertension [RCV001003667]\|Pulmonary arterial hypertension [RCV001823880]\|Pulmonary hypertension, primary, 1 [RCV000488669]\|not provided [RCV000198552]	pathogenic\|likely pathogenic\|not provided	2	202467648	202467648	Human	4	name
10409405	CV209586	single nucleotide variant	NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)	BMPR2-related disorder [RCV004553064]\|Primary pulmonary hypertension [RCV003595881]\|Pulmonary arterial hypertension [RCV001823876]\|Pulmonary arterial hypertension [RCV004553063]\|Pulmonary hypertension, primary, 1 [RCV000488817]\|Pulmonary hypertension, primary, 1 ... (more) [RCV005025313]\|not provided [RCV000196055]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	202518997	202518997	Human	4	name , alternate_id
10411313	CV209587	single nucleotide variant	NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)	Pulmonary arterial hypertension [RCV001823875]\|not provided [RCV000200009]	pathogenic\|likely pathogenic\|not provided	2	202519046	202519046	Human	2	name
155943012	CV2143097	single nucleotide variant	NM_001204.7(BMPR2):c.641A>T (p.Tyr214Phe)	Primary pulmonary hypertension [RCV002994176]	likely benign	2	202518841	202518841	Human	2	name
155960840	CV2144243	single nucleotide variant	NM_001204.7(BMPR2):c.632G>A (p.Arg211Gln)	Primary pulmonary hypertension [RCV003015457]	likely benign	2	202518832	202518832	Human	2	name
11039971	CV224249	single nucleotide variant	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	Primary pulmonary hypertension [RCV001376625]\|Pulmonary arterial hypertension [RCV001003673]\|Pulmonary arterial hypertension [RCV001823881]\|Pulmonary hypertension, primary, 1 [RCV000208112]\|Pulmonary hypertension, primary, 1 [RCV002500667]\|not provided [RCV000489453]	pathogenic\|not provided	2	202513739	202513739	Human	4	name
155950094	CV2267780	single nucleotide variant	NM_001204.7(BMPR2):c.638G>A (p.Arg213Gln)	Inborn genetic diseases [RCV002840275]	uncertain significance	2	202518838	202518838	Human	1	name
11089913	CV228911	single nucleotide variant	NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro)	Idiopathic and/or familial pulmonary arterial hypertension [RCV000215404]\|Pulmonary arterial hypertension [RCV004547518]\|Pulmonary hypertension, primary, 1 [RCV000488745]	pathogenic\|likely pathogenic\|uncertain significance	2	202520135	202520135	Human	4	name
155916224	CV2366609	single nucleotide variant	NM_001204.7(BMPR2):c.440G>A (p.Arg147Gln)	Inborn genetic diseases [RCV003012629]\|Primary pulmonary hypertension [RCV003596229]	benign\|uncertain significance	2	202513740	202513740	Human	3	name
8598050	CV23838	single nucleotide variant	NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)	Primary pulmonary hypertension [RCV001851760]\|Pulmonary arterial hypertension [RCV001823865]\|Pulmonary arterial hypertension [RCV004547471]\|Pulmonary hypertension, primary, 1 [RCV000009344]	pathogenic\|not provided	2	202467625	202467625	Human	4	name
8598054	CV23843	single nucleotide variant	NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter)	Pulmonary hypertension, primary, 1 [RCV000009349]	pathogenic	2	202513807	202513807	Human	1	name
8598057	CV23847	single nucleotide variant	NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)	Pulmonary arterial hypertension [RCV001003665]\|Pulmonary arterial hypertension [RCV001823870]\|Pulmonary hypertension, primary, 1 [RCV000009353]	pathogenic\|not provided	2	202467638	202467638	Human	3	name
8598058	CV23848	single nucleotide variant	NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser)	Pulmonary hypertension, primary, 1 [RCV000009354]	pathogenic	2	202467638	202467638	Human	1	name
8598059	CV23849	single nucleotide variant	NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)	Primary pulmonary hypertension [RCV001376626]\|Pulmonary arterial hypertension [RCV001003704]\|Pulmonary hypertension, primary, 1 [RCV000009355]\|not provided [RCV000498671]	pathogenic	2	202530820	202530820	Human	4	name
8598061	CV23851	single nucleotide variant	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	Primary pulmonary hypertension [RCV002228023]\|Pulmonary arterial hypertension [RCV001003683]\|Pulmonary arterial hypertension [RCV001823871]\|Pulmonary hypertension, primary, 1 [RCV000009357]\|Pulmonary hypertension, primary, 1 [RCV002476949]\|Pulmonary hypertension, primary, dexfenfluramine-associated ... (more) [RCV000009358]\|not provided [RCV000197776]	pathogenic\|likely pathogenic\|not provided	2	202518831	202518831	Human	4	name
8598062	CV23852	single nucleotide variant	NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)	Primary pulmonary hypertension [RCV002512940]\|Pulmonary arterial hypertension [RCV004549351]\|Pulmonary hypertension, primary, 1 [RCV002272013]\|Pulmonary hypertension, primary, fenfluramine-associated [RCV000009359]\|not provided [RCV000508281]	pathogenic\|likely benign\|uncertain significance	2	202514903	202514903	Human	4	name
11548977	CV259246	insertion	NM_001204.7(BMPR2):c.1277-10_1277-9insGGG	Pulmonary hypertension, primary, 1 [RCV000249808]	pathogenic	2	202542301	202542302	Human	1	name
11633991	CV264058	single nucleotide variant	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	Primary pulmonary hypertension [RCV005090327]\|Pulmonary arterial hypertension [RCV001003684]\|Pulmonary arterial hypertension [RCV001823883]\|Pulmonary hypertension, primary, 1 [RCV000488654]\|Pulmonary hypertension, primary, 1 [RCV003389326]\|not provided [RCV000385546]	pathogenic\|not provided	2	202518837	202518837	Human	4	name
401922891	CV2796564	single nucleotide variant	NM_001204.7(BMPR2):c.345C>G (p.Phe115Leu)	BMPR2-related disorder [RCV004550664]	uncertain significance	2	202467616	202467616	Human		name , trait , alternate_id
11582111	CV284788	single nucleotide variant	NM_001204.7(BMPR2):c.674G>A (p.Arg225His)	Primary pulmonary hypertension [RCV001507149]\|Pulmonary hypertension, primary, 1 [RCV000398549]\|not provided [RCV003736727]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	202518874	202518874	Human	3	name
405084431	CV2874115	single nucleotide variant	NM_001204.7(BMPR2):c.860T>G (p.Leu287Ter)	Primary pulmonary hypertension [RCV003596363]	pathogenic	2	202520094	202520094	Human	2	name
405085807	CV2875649	single nucleotide variant	NM_001204.7(BMPR2):c.710G>A (p.Arg237His)	Primary pulmonary hypertension [RCV003596418]	likely benign	2	202518910	202518910	Human	2	name
405087051	CV2880979	single nucleotide variant	NM_001204.7(BMPR2):c.776G>A (p.Arg259His)	Primary pulmonary hypertension [RCV003596712]\|Pulmonary hypertension, primary, 1 [RCV005030090]	benign\|uncertain significance	2	202518976	202518976	Human	3	name
405086235	CV2884514	single nucleotide variant	NM_001204.7(BMPR2):c.785T>C (p.Val262Ala)	Inborn genetic diseases [RCV004369143]\|Primary pulmonary hypertension [RCV003596725]	likely benign\|uncertain significance	2	202518985	202518985	Human	3	name
405087346	CV2890360	single nucleotide variant	NM_001204.7(BMPR2):c.914C>T (p.Ala305Val)	Inborn genetic diseases [RCV005311005]\|Primary pulmonary hypertension [RCV003596821]\|Pulmonary hypertension, primary, 1 [RCV005030104]	likely benign\|uncertain significance	2	202520148	202520148	Human	4	name
405087992	CV2899370	single nucleotide variant	NM_001204.7(BMPR2):c.815G>A (p.Arg272His)	Primary pulmonary hypertension [RCV003596871]	likely benign	2	202519015	202519015	Human	2	name
405090870	CV2931826	deletion	NM_001204.7(BMPR2):c.2319del (p.Phe773fs)	Primary pulmonary hypertension [RCV003597106]	pathogenic	2	202555982	202555982	Human	2	name
405060431	CV2963562	single nucleotide variant	NM_001204.7(BMPR2):c.457A>G (p.Ile153Val)	Primary pulmonary hypertension [RCV003762390]	likely benign	2	202513757	202513757	Human	2	name
405061918	CV2981529	single nucleotide variant	NM_001204.7(BMPR2):c.3108C>T (p.Asn1036=)	Primary pulmonary hypertension [RCV003762517]	likely benign	2	202559937	202559937	Human	2	name
405214452	CV3128332	single nucleotide variant	NM_001204.7(BMPR2):c.667G>C (p.Asp223His)	Primary pulmonary hypertension [RCV003823756]\|Pulmonary hypertension, primary, 1 [RCV004759323]	likely benign\|uncertain significance	2	202518867	202518867	Human	3	name
405762911	CV3291286	single nucleotide variant	NM_001204.7(BMPR2):c.308C>T (p.Thr103Ile)	Inborn genetic diseases [RCV004433937]	uncertain significance	2	202467579	202467579	Human	1	name
405797842	CV3386259	single nucleotide variant	NM_001204.7(BMPR2):c.803C>G (p.Thr268Ser)	Inborn genetic diseases [RCV004508171]\|Pulmonary hypertension, primary, 1 [RCV005023556]	uncertain significance	2	202519003	202519003	Human	2	name
405797845	CV3386260	single nucleotide variant	NM_001204.7(BMPR2):c.929G>T (p.Arg310Ile)	Inborn genetic diseases [RCV004508172]	uncertain significance	2	202520163	202520163	Human	1	name
596929923	CV3538590	single nucleotide variant	NM_001204.7(BMPR2):c.817A>G (p.Met273Val)	not provided [RCV004792058]	uncertain significance	2	202519017	202519017	Human		name
597636972	CV3643031	single nucleotide variant	NM_001204.7(BMPR2):c.3099A>T (p.Ile1033=)	Inborn genetic diseases [RCV004970044]	likely benign	2	202559928	202559928	Human	1	name
597637009	CV3643044	single nucleotide variant	NM_001204.7(BMPR2):c.412C>T (p.Pro138Ser)	Inborn genetic diseases [RCV004970055]	uncertain significance	2	202467683	202467683	Human	1	name
597628171	CV3643061	single nucleotide variant	NM_001204.7(BMPR2):c.424C>T (p.Pro142Ser)	Inborn genetic diseases [RCV004970071]\|Pulmonary hypertension, primary, 1 [RCV005023756]	uncertain significance	2	202513724	202513724	Human	2	name
597637086	CV3643070	single nucleotide variant	NM_001204.7(BMPR2):c.3027T>G (p.Val1009=)	Inborn genetic diseases [RCV004970079]	likely benign	2	202559856	202559856	Human	1	name
597637090	CV3643071	single nucleotide variant	NM_001204.7(BMPR2):c.578C>G (p.Ala193Gly)	Inborn genetic diseases [RCV004970080]	uncertain significance	2	202514936	202514936	Human	1	name
597637093	CV3643072	single nucleotide variant	NM_001204.7(BMPR2):c.862T>C (p.Cys288Arg)	Inborn genetic diseases [RCV004970081]	uncertain significance	2	202520096	202520096	Human	1	name
597637128	CV3643085	single nucleotide variant	NM_001204.7(BMPR2):c.828G>C (p.Leu276Phe)	Inborn genetic diseases [RCV004970092]	uncertain significance	2	202519028	202519028	Human	1	name
597636808	CV3646852	single nucleotide variant	NM_001204.7(BMPR2):c.521T>C (p.Met174Thr)	Inborn genetic diseases [RCV004969996]	uncertain significance	2	202513821	202513821	Human	1	name
597636813	CV3646853	single nucleotide variant	NM_001204.7(BMPR2):c.970C>A (p.His324Asn)	Inborn genetic diseases [RCV004969997]	uncertain significance	2	202530796	202530796	Human	1	name
597636830	CV3646860	single nucleotide variant	NM_001204.7(BMPR2):c.427C>G (p.His143Asp)	Inborn genetic diseases [RCV004970003]	uncertain significance	2	202513727	202513727	Human	1	name
597636878	CV3646875	single nucleotide variant	NM_001204.7(BMPR2):c.700T>C (p.Phe234Leu)	Inborn genetic diseases [RCV004970017]	uncertain significance	2	202518900	202518900	Human	1	name
597636894	CV3646880	single nucleotide variant	NM_001204.7(BMPR2):c.499G>C (p.Ala167Pro)	Inborn genetic diseases [RCV004970021]	uncertain significance	2	202513799	202513799	Human	1	name
597636905	CV3646885	single nucleotide variant	NM_001204.7(BMPR2):c.737T>A (p.Ile246Asn)	Inborn genetic diseases [RCV004970025]\|not provided [RCV005363377]	uncertain significance	2	202518937	202518937	Human	1	name
597636906	CV3646886	single nucleotide variant	NM_001204.7(BMPR2):c.452T>C (p.Ile151Thr)	Inborn genetic diseases [RCV004970026]	uncertain significance	2	202513752	202513752	Human	1	name
597636913	CV3646888	single nucleotide variant	NM_001204.7(BMPR2):c.646G>A (p.Ala216Thr)	Inborn genetic diseases [RCV004970028]	uncertain significance	2	202518846	202518846	Human	1	name
597636937	CV3646896	single nucleotide variant	NM_001204.7(BMPR2):c.3021G>A (p.Arg1007=)	Inborn genetic diseases [RCV004970035]\|Primary pulmonary hypertension [RCV005110046]	likely benign	2	202559850	202559850	Human	3	name
597678834	CV3709818	single nucleotide variant	NM_001204.7(BMPR2):c.341G>A (p.Arg114His)	Pulmonary hypertension, primary, 1 [RCV005030780]	uncertain significance	2	202467612	202467612	Human	1	name
597678843	CV3709819	single nucleotide variant	NM_001204.7(BMPR2):c.419G>T (p.Ser140Ile)	Pulmonary hypertension, primary, 1 [RCV005030781]	uncertain significance	2	202513719	202513719	Human	1	name
597678863	CV3709820	single nucleotide variant	NM_001204.7(BMPR2):c.521T>G (p.Met174Arg)	Pulmonary hypertension, primary, 1 [RCV005030783]	uncertain significance	2	202513821	202513821	Human	1	name
597678880	CV3709822	single nucleotide variant	NM_001204.7(BMPR2):c.691G>C (p.Val231Leu)	Pulmonary hypertension, primary, 1 [RCV005030785]	uncertain significance	2	202518891	202518891	Human	1	name
597678910	CV3709825	single nucleotide variant	NM_001204.7(BMPR2):c.887G>A (p.Ser296Asn)	Pulmonary hypertension, primary, 1 [RCV005030788]	uncertain significance	2	202520121	202520121	Human	1	name
597678921	CV3709826	single nucleotide variant	NM_001204.7(BMPR2):c.900C>G (p.Ser300Arg)	Pulmonary hypertension, primary, 1 [RCV005030789]	uncertain significance	2	202520134	202520134	Human	1	name
597678930	CV3709827	single nucleotide variant	NM_001204.7(BMPR2):c.907C>T (p.Arg303Cys)	Pulmonary hypertension, primary, 1 [RCV005030790]	uncertain significance	2	202520141	202520141	Human	1	name
597678941	CV3709828	single nucleotide variant	NM_001204.7(BMPR2):c.926C>T (p.Thr309Ile)	Pulmonary hypertension, primary, 1 [RCV005030791]	uncertain significance	2	202520160	202520160	Human	1	name
597678959	CV3709829	single nucleotide variant	NM_001204.7(BMPR2):c.971A>G (p.His324Arg)	Pulmonary hypertension, primary, 1 [RCV005030793]	uncertain significance	2	202530797	202530797	Human	1	name
597968892	CV3761245	single nucleotide variant	NM_001204.7(BMPR2):c.877C>T (p.Leu293Phe)	Primary pulmonary hypertension [RCV005083632]	uncertain significance	2	202520111	202520111	Human	2	name
597870679	CV3835177	single nucleotide variant	NM_001204.7(BMPR2):c.769A>G (p.Ile257Val)	Inborn genetic diseases [RCV005303511]\|Primary pulmonary hypertension [RCV005176353]	uncertain significance	2	202518969	202518969	Human	3	name
597959460	CV3843394	deletion	NM_001204.7(BMPR2):c.1959del (p.Val654fs)	Primary pulmonary hypertension [RCV005192428]	pathogenic	2	202555624	202555624	Human	2	name
597905330	CV3846514	single nucleotide variant	NM_001204.7(BMPR2):c.851A>G (p.Asn284Ser)	Primary pulmonary hypertension [RCV005181941]	likely benign	2	202519051	202519051	Human	2	name
597967898	CV3853298	single nucleotide variant	NM_001204.7(BMPR2):c.347G>C (p.Cys116Ser)	Primary pulmonary hypertension [RCV005194940]	likely pathogenic	2	202467618	202467618	Human	2	name
598125073	CV3885569	single nucleotide variant	NM_001204.7(BMPR2):c.806C>T (p.Ala269Val)	not specified [RCV005240147]	uncertain significance	2	202519006	202519006	Human		name
598209263	CV3894893	single nucleotide variant	NM_001204.7(BMPR2):c.554G>A (p.Ser185Asn)	Pulmonary arterial hypertension [RCV005358369]	uncertain significance	2	202514912	202514912	Human	2	name
12883224	CV392462	single nucleotide variant	NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)	Primary pulmonary hypertension [RCV001376634]\|Pulmonary arterial hypertension [RCV001003700]\|Pulmonary hypertension, primary, 1 [RCV000461193]\|Pulmonary hypertension, primary, 1 [RCV005027523]\|not provided [RCV001810954]	pathogenic	2	202520195	202520195	Human	4	name
12889993	CV392468	single nucleotide variant	NM_001204.7(BMPR2):c.3012C>T (p.Gly1004=)	Primary pulmonary hypertension [RCV000473806]	likely benign	2	202559841	202559841	Human	2	name
598162188	CV3945947	single nucleotide variant	NM_001204.7(BMPR2):c.307A>G (p.Thr103Ala)	Inborn genetic diseases [RCV005307158]	uncertain significance	2	202467578	202467578	Human	1	name
598249536	CV3945951	single nucleotide variant	NM_001204.7(BMPR2):c.709C>T (p.Arg237Cys)	Inborn genetic diseases [RCV005298180]	uncertain significance	2	202518909	202518909	Human	1	name
598249542	CV3945952	single nucleotide variant	NM_001204.7(BMPR2):c.641A>G (p.Tyr214Cys)	Inborn genetic diseases [RCV005298181]	uncertain significance	2	202518841	202518841	Human	1	name
598162247	CV3945980	single nucleotide variant	NM_001204.7(BMPR2):c.500C>G (p.Ala167Gly)	Inborn genetic diseases [RCV005307172]	uncertain significance	2	202513800	202513800	Human	1	name
598249636	CV3945983	single nucleotide variant	NM_001204.7(BMPR2):c.661T>G (p.Ser221Ala)	Inborn genetic diseases [RCV005298198]	uncertain significance	2	202518861	202518861	Human	1	name
598162255	CV3945984	single nucleotide variant	NM_001204.7(BMPR2):c.799G>A (p.Val267Ile)	Inborn genetic diseases [RCV005307174]	uncertain significance	2	202518999	202518999	Human	1	name
598249694	CV3945996	single nucleotide variant	NM_001204.7(BMPR2):c.883A>C (p.Thr295Pro)	Inborn genetic diseases [RCV005298208]	uncertain significance	2	202520117	202520117	Human	1	name
598249722	CV3946003	single nucleotide variant	NM_001204.7(BMPR2):c.698C>G (p.Ser233Cys)	Inborn genetic diseases [RCV005298213]	uncertain significance	2	202518898	202518898	Human	1	name
598162287	CV3946017	single nucleotide variant	NM_001204.7(BMPR2):c.329A>G (p.Asn110Ser)	Inborn genetic diseases [RCV005307182]	uncertain significance	2	202467600	202467600	Human	1	name
598249818	CV3946027	single nucleotide variant	NM_001204.7(BMPR2):c.305C>T (p.Thr102Ile)	Inborn genetic diseases [RCV005298231]	uncertain significance	2	202467576	202467576	Human	1	name
598162299	CV3946030	single nucleotide variant	NM_001204.7(BMPR2):c.878T>C (p.Leu293Pro)	Inborn genetic diseases [RCV005307185]	uncertain significance	2	202520112	202520112	Human	1	name
598249853	CV3946035	single nucleotide variant	NM_001204.7(BMPR2):c.761A>G (p.His254Arg)	Inborn genetic diseases [RCV005298237]	uncertain significance	2	202518961	202518961	Human	1	name
598162306	CV3946036	single nucleotide variant	NM_001204.7(BMPR2):c.788G>C (p.Gly263Ala)	Inborn genetic diseases [RCV005307187]	uncertain significance	2	202518988	202518988	Human	1	name
598162309	CV3946037	single nucleotide variant	NM_001204.7(BMPR2):c.404A>C (p.Asp135Ala)	Inborn genetic diseases [RCV005307188]	uncertain significance	2	202467675	202467675	Human	1	name
598162331	CV3946051	single nucleotide variant	NM_001204.7(BMPR2):c.704C>T (p.Ala235Val)	Inborn genetic diseases [RCV005307194]	uncertain significance	2	202518904	202518904	Human	1	name
598249904	CV3946052	single nucleotide variant	NM_001204.7(BMPR2):c.566T>C (p.Met189Thr)	Inborn genetic diseases [RCV005298246]	uncertain significance	2	202514924	202514924	Human	1	name
598249928	CV3946059	single nucleotide variant	NM_001204.7(BMPR2):c.465G>C (p.Leu155Phe)	Inborn genetic diseases [RCV005298251]	uncertain significance	2	202513765	202513765	Human	1	name
598249949	CV3946071	single nucleotide variant	NM_001204.7(BMPR2):c.409A>C (p.Thr137Pro)	Inborn genetic diseases [RCV005298256]	uncertain significance	2	202467680	202467680	Human	1	name
598162379	CV3946082	single nucleotide variant	NM_001204.7(BMPR2):c.563T>C (p.Met188Thr)	Inborn genetic diseases [RCV005307207]	uncertain significance	2	202514921	202514921	Human	1	name
598250018	CV3946094	single nucleotide variant	NM_001204.7(BMPR2):c.760C>T (p.His254Tyr)	Inborn genetic diseases [RCV005298269]	uncertain significance	2	202518960	202518960	Human	1	name
598162405	CV3946095	single nucleotide variant	NM_001204.7(BMPR2):c.413C>T (p.Pro138Leu)	Inborn genetic diseases [RCV005307214]	uncertain significance	2	202467684	202467684	Human	1	name
598250028	CV3946097	single nucleotide variant	NM_001204.7(BMPR2):c.701T>C (p.Phe234Ser)	Inborn genetic diseases [RCV005298271]	uncertain significance	2	202518901	202518901	Human	1	name
598162430	CV3946114	single nucleotide variant	NM_001204.7(BMPR2):c.398C>T (p.Pro133Leu)	Inborn genetic diseases [RCV005307220]	uncertain significance	2	202467669	202467669	Human	1	name
598250156	CV3946132	single nucleotide variant	NM_001204.7(BMPR2):c.860T>C (p.Leu287Ser)	Inborn genetic diseases [RCV005298293]	uncertain significance	2	202520094	202520094	Human	1	name
598250165	CV3946134	single nucleotide variant	NM_001204.7(BMPR2):c.412C>A (p.Pro138Thr)	Inborn genetic diseases [RCV005298295]	uncertain significance	2	202467683	202467683	Human	1	name
598250182	CV3946140	single nucleotide variant	NM_001204.7(BMPR2):c.898A>G (p.Ser300Gly)	Inborn genetic diseases [RCV005298298]	uncertain significance	2	202520132	202520132	Human	1	name
598162484	CV3946149	single nucleotide variant	NM_001204.7(BMPR2):c.590C>G (p.Ser197Cys)	Inborn genetic diseases [RCV005307233]	uncertain significance	2	202514948	202514948	Human	1	name
598250228	CV3946153	single nucleotide variant	NM_001204.7(BMPR2):c.467C>T (p.Ala156Val)	Inborn genetic diseases [RCV005298306]	uncertain significance	2	202513767	202513767	Human	1	name
598250268	CV3946162	single nucleotide variant	NM_001204.7(BMPR2):c.764A>G (p.Asp255Gly)	Inborn genetic diseases [RCV005298314]	uncertain significance	2	202518964	202518964	Human	1	name
598250311	CV3946172	single nucleotide variant	NM_001204.7(BMPR2):c.440G>C (p.Arg147Pro)	Inborn genetic diseases [RCV005298321]	uncertain significance	2	202513740	202513740	Human	1	name
598250315	CV3946173	single nucleotide variant	NM_001204.7(BMPR2):c.895G>C (p.Val299Leu)	Inborn genetic diseases [RCV005298322]	uncertain significance	2	202520129	202520129	Human	1	name
12905153	CV414141	single nucleotide variant	NM_001204.7(BMPR2):c.304A>G (p.Thr102Ala)	Pulmonary arterial hypertension associated with congenital heart disease [RCV000488524]	pathogenic	2	202467575	202467575	Human	1	name
12905304	CV414142	single nucleotide variant	NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro)	Pulmonary arterial hypertension associated with congenital heart disease [RCV000488716]\|not provided [RCV001755726]	pathogenic\|uncertain significance	2	202467590	202467590	Human	1	name
12905363	CV414143	single nucleotide variant	NM_001204.7(BMPR2):c.320C>G (p.Ser107Ter)	Pulmonary hypertension, primary, 1 [RCV000488800]	pathogenic	2	202467591	202467591	Human	1	name
12905179	CV414144	single nucleotide variant	NM_001204.7(BMPR2):c.338A>G (p.Tyr113Cys)	Pulmonary hypertension, primary, 1 [RCV000488555]	pathogenic	2	202467609	202467609	Human	1	name
12905282	CV414145	duplication	NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter)	Primary pulmonary hypertension [RCV003595999]\|Pulmonary hypertension, primary, 1 [RCV000488687]	pathogenic	2	202467608	202467609	Human	3	name
12905395	CV414146	single nucleotide variant	NM_001204.7(BMPR2):c.339C>A (p.Tyr113Ter)	Pulmonary hypertension, primary, 1 [RCV000488839]	pathogenic	2	202467610	202467610	Human	1	name
12905187	CV414147	single nucleotide variant	NM_001204.7(BMPR2):c.339C>G (p.Tyr113Ter)	Pulmonary hypertension, primary, 1 [RCV000488564]	pathogenic	2	202467610	202467610	Human	1	name
12905214	CV414150	single nucleotide variant	NM_001204.7(BMPR2):c.349T>C (p.Cys117Arg)	Pulmonary hypertension, primary, 1 [RCV000488598]	pathogenic	2	202467620	202467620	Human	1	name
12905313	CV414151	single nucleotide variant	NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)	Primary pulmonary hypertension [RCV001376585]\|Pulmonary arterial hypertension [RCV001823911]\|Pulmonary hypertension, primary, 1 [RCV000488729]\|not specified [RCV000507538]	pathogenic\|not provided	2	202467621	202467621	Human	4	name
12905126	CV414152	single nucleotide variant	NM_001204.7(BMPR2):c.350G>C (p.Cys117Ser)	Primary pulmonary hypertension [RCV003596000]\|Pulmonary hypertension, primary, 1 [RCV000488491]	pathogenic	2	202467621	202467621	Human	3	name
12905218	CV414153	single nucleotide variant	NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)	Pulmonary arterial hypertension [RCV001823912]\|Pulmonary hypertension, primary, 1 [RCV000488604]\|not provided [RCV001810973]	pathogenic\|likely pathogenic\|not provided	2	202467624	202467624	Human	3	name
12905381	CV414157	single nucleotide variant	NM_001204.7(BMPR2):c.370A>G (p.Asn124Asp)	Pulmonary hypertension, primary, 1 [RCV000488821]	pathogenic	2	202467641	202467641	Human	1	name
12905213	CV414163	indel	NM_001204.7(BMPR2):c.418+2_418+4delinsGAG	Pulmonary hypertension, primary, 1 [RCV000488595]	pathogenic	2	202467691	202467693	Human		name
12905248	CV414171	single nucleotide variant	NM_001204.7(BMPR2):c.461C>G (p.Ala154Gly)	Pulmonary hypertension, primary, 1 [RCV000488641]	uncertain significance	2	202513761	202513761	Human	1	name
12905361	CV414172	single nucleotide variant	NM_001204.7(BMPR2):c.482T>A (p.Leu161Ter)	Pulmonary hypertension, primary, 1 [RCV000488796]	pathogenic	2	202513782	202513782	Human	1	name
12905283	CV414175	single nucleotide variant	NM_001204.7(BMPR2):c.516C>G (p.Tyr172Ter)	Pulmonary hypertension, primary, 1 [RCV000488688]	pathogenic	2	202513816	202513816	Human	1	name
12905208	CV414178	single nucleotide variant	NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter)	Pulmonary hypertension, primary, 1 [RCV000488590]\|not provided [RCV000493325]	pathogenic	2	202514899	202514899	Human	1	name
12905120	CV414180	single nucleotide variant	NM_001204.7(BMPR2):c.556A>G (p.Met186Val)	Pulmonary arterial hypertension associated with congenital heart disease [RCV000488480]	pathogenic	2	202514914	202514914	Human	1	name
12905376	CV414183	single nucleotide variant	NM_001204.7(BMPR2):c.642T>G (p.Tyr214Ter)	Pulmonary hypertension, primary, 1 [RCV000488814]	pathogenic	2	202518842	202518842	Human	1	name
12905287	CV414188	single nucleotide variant	NM_001204.7(BMPR2):c.690A>T (p.Lys230Asn)	Pulmonary hypertension, primary, 1 [RCV000488693]	pathogenic	2	202518890	202518890	Human	1	name
12905207	CV414190	single nucleotide variant	NM_001204.7(BMPR2):c.727G>A (p.Glu243Lys)	Pulmonary hypertension, primary, 1 [RCV000488589]	pathogenic	2	202518927	202518927	Human	1	name
12905310	CV414191	single nucleotide variant	NM_001204.7(BMPR2):c.727G>C (p.Glu243Gln)	Pulmonary hypertension, primary, 1 [RCV000488725]	pathogenic	2	202518927	202518927	Human	1	name
12905401	CV414192	single nucleotide variant	NM_001204.7(BMPR2):c.727G>T (p.Glu243Ter)	Pulmonary hypertension, primary, 1 [RCV000488845]	pathogenic	2	202518927	202518927	Human	1	name
12905341	CV414197	single nucleotide variant	NM_001204.7(BMPR2):c.794A>G (p.Glu265Gly)	Pulmonary hypertension, primary, 1 [RCV000488763]	pathogenic	2	202518994	202518994	Human	1	name
12905364	CV414202	single nucleotide variant	NM_001204.7(BMPR2):c.818T>G (p.Met273Arg)	Pulmonary hypertension, primary, 1 [RCV000488801]\|Pulmonary hypertension, primary, 1 [RCV005027564]	uncertain significance	2	202519018	202519018	Human	1	name
12905142	CV414203	single nucleotide variant	NM_001204.7(BMPR2):c.830T>C (p.Leu277Pro)	Pulmonary hypertension, primary, 1 [RCV000488510]	pathogenic	2	202519030	202519030	Human	1	name
12905388	CV414209	single nucleotide variant	NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter)	Pulmonary arterial hypertension [RCV001003698]\|Pulmonary hypertension, primary, 1 [RCV000488830]	pathogenic	2	202520094	202520094	Human	3	name
12905198	CV414210	single nucleotide variant	NM_001204.7(BMPR2):c.872T>G (p.Leu291Ter)	Pulmonary hypertension, primary, 1 [RCV000488576]	pathogenic	2	202520106	202520106	Human	1	name
12905115	CV414212	single nucleotide variant	NM_001204.7(BMPR2):c.893G>A (p.Trp298Ter)	Pulmonary hypertension, primary, 1 [RCV000488473]	pathogenic	2	202520127	202520127	Human	1	name
12905136	CV414214	single nucleotide variant	NM_001204.7(BMPR2):c.908G>A (p.Arg303His)	Pulmonary arterial hypertension [RCV004720262]\|Pulmonary hypertension, primary, 1 [RCV000488504]\|Pulmonary hypertension, primary, 1 [RCV002481548]\|not provided [RCV002223216]	pathogenic\|likely pathogenic\|uncertain significance	2	202520142	202520142	Human	3	name
12905228	CV414215	single nucleotide variant	NM_001204.7(BMPR2):c.928A>T (p.Arg310Ter)	Pulmonary hypertension, primary, 1 [RCV000488615]	pathogenic	2	202520162	202520162	Human	1	name
12905349	CV414216	single nucleotide variant	NM_001204.7(BMPR2):c.932G>A (p.Gly311Glu)	Primary pulmonary hypertension [RCV002527013]\|Pulmonary arterial hypertension [RCV004720263]\|Pulmonary hypertension, primary, 1 [RCV000488777]	pathogenic\|uncertain significance	2	202520166	202520166	Human	4	name
12905105	CV414217	single nucleotide variant	NM_001204.7(BMPR2):c.937G>C (p.Ala313Pro)	Pulmonary hypertension, primary, 1 [RCV000488458]	pathogenic	2	202520171	202520171	Human	1	name
12905246	CV414218	single nucleotide variant	NM_001204.7(BMPR2):c.954A>C (p.Glu318Asp)	Pulmonary hypertension, primary, 1 [RCV000488639]	uncertain significance	2	202520188	202520188	Human	1	name
12905108	CV414229	single nucleotide variant	NM_001204.7(BMPR2):c.992A>G (p.His331Arg)	Pulmonary arterial hypertension [RCV001003703]\|Pulmonary hypertension, primary, 1 [RCV000488462]	pathogenic	2	202530818	202530818	Human	3	name
12905158	CV414235	deletion	NM_001204.7(BMPR2):c.1044del (p.Ile349fs)	Pulmonary hypertension, primary, 1 [RCV000488530]	pathogenic	2	202530869	202530869	Human	1	name
12905307	CV414236	deletion	NM_001204.7(BMPR2):c.1060del (p.Leu354fs)	Pulmonary hypertension, primary, 1 [RCV000488720]	pathogenic	2	202530886	202530886	Human	1	name
12905164	CV414238	deletion	NM_001204.7(BMPR2):c.1076del (p.Thr359fs)	Pulmonary hypertension, primary, 1 [RCV000488536]	pathogenic	2	202530902	202530902	Human	1	name
12905403	CV414240	deletion	NM_001204.7(BMPR2):c.1097del (p.Pro366fs)	Primary pulmonary hypertension [RCV001386886]\|Pulmonary hypertension, primary, 1 [RCV000488847]\|not provided [RCV000493580]	pathogenic	2	202530921	202530921	Human	3	name
12905332	CV414242	duplication	NM_001204.7(BMPR2):c.1113dup (p.Ala372fs)	Pulmonary hypertension, primary, 1 [RCV000488754]	pathogenic	2	202530938	202530939	Human	1	name
12905240	CV414248	duplication	NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)	Primary pulmonary hypertension [RCV001388597]\|Pulmonary hypertension, primary, 1 [RCV000488632]	pathogenic	2	202532596	202532597	Human	3	name
12905219	CV414261	deletion	NM_001204.7(BMPR2):c.1214del (p.Asp405fs)	Pulmonary hypertension, primary, 1 [RCV000488605]	pathogenic	2	202532670	202532670	Human	1	name
12905231	CV414270	deletion	NM_001204.7(BMPR2):c.1248del (p.Phe417fs)	Pulmonary hypertension, primary, 1 [RCV000488619]	pathogenic	2	202532704	202532704	Human	1	name
12905155	CV414275	duplication	NM_001204.7(BMPR2):c.1268dup (p.Phe424fs)	Pulmonary hypertension, primary, 1 [RCV000488526]	pathogenic	2	202532723	202532724	Human	1	name
12905409	CV414277	duplication	NM_001204.7(BMPR2):c.1274dup (p.Gly426fs)	Pulmonary hypertension, primary, 1 [RCV000488856]	pathogenic	2	202532727	202532728	Human	1	name
12905144	CV414294	deletion	NM_001204.7(BMPR2):c.1371del (p.Lys457fs)	Pulmonary hypertension, primary, 1 [RCV000488512]	pathogenic	2	202542401	202542401	Human	1	name
12905288	CV414295	duplication	NM_001204.7(BMPR2):c.1371dup (p.Gln458fs)	Pulmonary arterial hypertension [RCV001003719]\|Pulmonary hypertension, primary, 1 [RCV000488695]	pathogenic	2	202542400	202542401	Human	3	name
12905315	CV414298	duplication	NM_001204.7(BMPR2):c.1389dup (p.Glu464fs)	Pulmonary hypertension, primary, 1 [RCV000488731]	pathogenic	2	202542422	202542423	Human	1	name
12905399	CV414299	deletion	NM_001204.7(BMPR2):c.1392del (p.Ala465fs)	Pulmonary hypertension, primary, 1 [RCV000488843]	pathogenic	2	202542425	202542425	Human	1	name
12905131	CV414301	deletion	NM_001204.7(BMPR2):c.1401del (p.Glu468fs)	Pulmonary hypertension, primary, 1 [RCV000488497]	pathogenic	2	202542433	202542433	Human	1	name
12905145	CV414307	deletion	NM_001204.7(BMPR2):c.1427del (p.Leu476fs)	Pulmonary hypertension, primary, 1 [RCV000488514]	pathogenic	2	202552729	202552729	Human	1	name
12905344	CV414314	duplication	NM_001204.7(BMPR2):c.1477dup (p.Thr493fs)	Pulmonary hypertension, primary, 1 [RCV000488768]	pathogenic	2	202552778	202552779	Human	1	name
12905172	CV414323	deletion	NM_001204.7(BMPR2):c.1585del (p.Arg529fs)	Pulmonary hypertension, primary, 1 [RCV000488545]	pathogenic	2	202552887	202552887	Human	1	name
12905311	CV414332	duplication	NM_001204.7(BMPR2):c.1968dup (p.Gln657fs)	Pulmonary hypertension, primary, 1 [RCV000488726]	pathogenic	2	202555632	202555633	Human	1	name
12905112	CV414336	deletion	NM_001204.7(BMPR2):c.2009del (p.Pro670fs)	Pulmonary hypertension, primary, 1 [RCV000488467]	pathogenic	2	202555672	202555672	Human	1	name
12905352	CV414338	deletion	NM_001204.7(BMPR2):c.2128del (p.Leu710fs)	Pulmonary hypertension, primary, 1 [RCV000488782]	pathogenic	2	202555793	202555793	Human	1	name
12905109	CV414339	deletion	NM_001204.7(BMPR2):c.2286del (p.Asn764fs)	Pulmonary hypertension, primary, 1 [RCV000488463]	pathogenic	2	202555950	202555950	Human	1	name
12905250	CV414340	duplication	NM_001204.7(BMPR2):c.2291dup (p.Asn764fs)	Primary pulmonary hypertension [RCV003596002]\|Pulmonary hypertension, primary, 1 [RCV000488643]	pathogenic	2	202555951	202555952	Human	3	name
12905167	CV414342	deletion	NM_001204.7(BMPR2):c.2297del (p.Thr766fs)	Pulmonary hypertension, primary, 1 [RCV000488539]	pathogenic	2	202555962	202555962	Human	1	name
12905368	CV414344	deletion	NM_001204.7(BMPR2):c.2308del (p.Arg770fs)	Pulmonary hypertension, primary, 1 [RCV000488806]	pathogenic	2	202555970	202555970	Human	1	name
12905140	CV414345	deletion	NM_001204.7(BMPR2):c.2386del (p.Ala796fs)	Pulmonary hypertension, primary, 1 [RCV000488508]	pathogenic	2	202556051	202556051	Human	1	name
12905223	CV414348	duplication	NM_001204.7(BMPR2):c.2413dup (p.Thr805fs)	Pulmonary hypertension, primary, 1 [RCV000488609]	pathogenic	2	202556077	202556078	Human	1	name
12905197	CV414351	deletion	NM_001204.7(BMPR2):c.2484del (p.Thr829fs)	Pulmonary hypertension, primary, 1 [RCV000488575]	pathogenic	2	202556147	202556147	Human	1	name
12905337	CV414353	duplication	NM_001204.7(BMPR2):c.2503dup (p.Thr835fs)	Pulmonary hypertension, primary, 1 [RCV000488759]	pathogenic	2	202556165	202556166	Human	1	name
12905191	CV414354	deletion	NM_001204.7(BMPR2):c.2504del (p.Thr835fs)	Pulmonary hypertension, primary, 1 [RCV000488569]	pathogenic	2	202556169	202556169	Human	1	name
12905249	CV414357	deletion	NM_001204.7(BMPR2):c.2527del (p.Ala843fs)	Pulmonary hypertension, primary, 1 [RCV000488642]	pathogenic	2	202556190	202556190	Human	1	name
12905121	CV414359	deletion	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	Primary pulmonary hypertension [RCV002230969]\|Pulmonary arterial hypertension [RCV001823923]\|Pulmonary hypertension, primary, 1 [RCV000488482]\|not provided [RCV002291646]	pathogenic\|not provided	2	202556244	202556244	Human	4	name
12905355	CV414361	deletion	NM_001204.7(BMPR2):c.2609del (p.Leu870fs)	Pulmonary hypertension, primary, 1 [RCV000488789]	pathogenic	2	202556272	202556272	Human	1	name
12905276	CV414365	deletion	NM_001204.7(BMPR2):c.2668del (p.Arg890fs)	Pulmonary hypertension, primary, 1 [RCV000488680]	pathogenic	2	202556333	202556333	Human	1	name
13437274	CV433383	deletion	NM_001204.7(BMPR2):c.1506del (p.Glu503fs)	not specified [RCV000508589]	pathogenic	2	202552808	202552808	Human		name
13474606	CV450259	deletion	NM_001204.7(BMPR2):c.1148del (p.Met383fs)	Primary pulmonary hypertension [RCV002231274]	pathogenic	2	202532604	202532604	Human	2	name
13468324	CV450514	single nucleotide variant	NM_001204.7(BMPR2):c.340C>T (p.Arg114Cys)	Primary pulmonary hypertension [RCV002231036]	uncertain significance	2	202467611	202467611	Human	2	name
8604240	CV48021	single nucleotide variant	NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)	Familial pulmonary capillary hemangiomatosis [RCV003227622]\|Pulmonary venoocclusive disease 1 [RCV003984810]	pathogenic\|uncertain significance	2	202514962	202514962	Human	2	name
8604241	CV48022	single nucleotide variant	NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter)	Pulmonary venoocclusive disease 1 [RCV003984811]	pathogenic	2	202514941	202514941	Human	1	name
13592848	CV496630	deletion	NM_001204.6(BMPR2):c.(?_-63)_(76_?)+61del	Idiopathic and/or familial pulmonary arterial hypertension [RCV000599728]	pathogenic	2	202377412	202377611	Human	1	name
13616432	CV517635	single nucleotide variant	NM_001204.7(BMPR2):c.673C>T (p.Arg225Cys)	Primary pulmonary hypertension [RCV002233953]\|Pulmonary hypertension, primary, 1 [RCV005027746]	uncertain significance	2	202518873	202518873	Human	3	name
13812132	CV557816	duplication	NM_001204.7(BMPR2):c.1513dup (p.Met505fs)	Primary pulmonary hypertension [RCV002232887]	pathogenic	2	202552814	202552815	Human	2	name
14394063	CV609469	single nucleotide variant	NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter)	Primary pulmonary hypertension [RCV005056503]\|not provided [RCV000757032]	pathogenic	2	202518912	202518912	Human	2	name
14393508	CV609470	deletion	NM_001204.7(BMPR2):c.1342del (p.Asp448fs)	not provided [RCV000755851]	pathogenic	2	202542375	202542375	Human		name
14730246	CV629306	deletion	NM_001204.7(BMPR2):c.1536del (p.Lys512fs)	Primary pulmonary hypertension [RCV002235363]	pathogenic	2	202552836	202552836	Human	2	name
14741481	CV629308	deletion	NM_001204.7(BMPR2):c.2216del (p.Pro739fs)	Primary pulmonary hypertension [RCV002234998]\|Pulmonary arterial hypertension [RCV001823929]\|not provided [RCV001811492]	pathogenic\|not provided	2	202555880	202555880	Human	3	name
21405617	CV799275	single nucleotide variant	NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)	Pulmonary arterial hypertension [RCV001823930]\|Pulmonary hypertension, primary, 1 [RCV004796342]\|not provided [RCV001811584]	uncertain significance\|not provided	2	202513829	202513829	Human	3	name
21404706	CV801012	single nucleotide variant	NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg)	Pulmonary arterial hypertension [RCV001003663]	pathogenic	2	202467617	202467617	Human	2	name
21404707	CV801013	single nucleotide variant	NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly)	Pulmonary arterial hypertension [RCV001003664]	pathogenic	2	202467620	202467620	Human	2	name
21404976	CV801016	deletion	NM_001204.7(BMPR2):c.419-5439_622-1285del	Pulmonary arterial hypertension [RCV001003881]	likely pathogenic	2	202508280	202517537	Human	2	name
21404712	CV801017	single nucleotide variant	NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter)	Pulmonary arterial hypertension [RCV001003675]	pathogenic	2	202513770	202513770	Human	2	name
21404733	CV801026	single nucleotide variant	NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter)	Pulmonary arterial hypertension [RCV001003691]	pathogenic	2	202518993	202518993	Human	2	name
21404736	CV801028	single nucleotide variant	NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter)	Pulmonary arterial hypertension [RCV001003693]	pathogenic	2	202519043	202519043	Human	2	name
21404738	CV801029	single nucleotide variant	NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter)	Pulmonary arterial hypertension [RCV001003694]	pathogenic	2	202519046	202519046	Human	2	name
21404742	CV801030	single nucleotide variant	NM_001204.7(BMPR2):c.917A>C (p.His306Pro)	Pulmonary arterial hypertension [RCV001003699]	likely pathogenic	2	202520151	202520151	Human	2	name
21404772	CV801049	deletion	NM_001204.7(BMPR2):c.2004del (p.Asp669fs)	Pulmonary arterial hypertension [RCV001003732]	likely pathogenic	2	202555669	202555669	Human	2	name
21404778	CV801053	duplication	NM_001204.7(BMPR2):c.2245dup (p.Gln749fs)	Pulmonary arterial hypertension [RCV001003736]	pathogenic	2	202555909	202555910	Human	2	name
21404781	CV801055	duplication	NM_001204.7(BMPR2):c.2426dup (p.Ala810fs)	Pulmonary arterial hypertension [RCV001003738]	pathogenic	2	202556090	202556091	Human	2	name
21404784	CV801057	deletion	NM_001204.7(BMPR2):c.2533del (p.Glu845fs)	Pulmonary arterial hypertension [RCV001003740]	pathogenic	2	202556198	202556198	Human	2	name
26920909	CV825604	deletion	NM_001204.7(BMPR2):c.2202del (p.Pro735fs)	Primary pulmonary hypertension [RCV001048830]\|Pulmonary arterial hypertension [RCV001823934]	pathogenic\|not provided	2	202555866	202555866	Human	3	name
28894438	CV883369	single nucleotide variant	NM_001204.7(BMPR2):c.748C>T (p.Pro250Ser)	Inborn genetic diseases [RCV002556994]\|Primary pulmonary hypertension [RCV005093627]\|Pulmonary hypertension, primary, 1 [RCV001140511]	uncertain significance	2	202518948	202518948	Human	4	name
28894442	CV883370	single nucleotide variant	NM_001204.7(BMPR2):c.798A>T (p.Arg266Ser)	Pulmonary hypertension, primary, 1 [RCV001140512]	uncertain significance	2	202518998	202518998	Human	1	name
41405086	CV981384	deletion	NM_001204.7(BMPR2):c.1028del (p.Asn343fs)	not provided [RCV001812383]	pathogenic	2	202530850	202530850	Human		name
41405339	CV981388	deletion	NM_001204.7(BMPR2):c.2569del (p.Arg857fs)	not provided [RCV001812940]	pathogenic	2	202556232	202556232	Human		name
126747520	CV988305	single nucleotide variant	NM_001204.7(BMPR2):c.668A>G (p.Asp223Gly)	Primary pulmonary hypertension [RCV001296745]	uncertain significance	2	202518868	202518868	Human	2	name
598250101	CV3946116	single nucleotide variant	NM_001204.7(BMPR2):c.2260A>G (p.Arg754Gly)	Inborn genetic diseases [RCV005298283]	uncertain significance	2	202555925	202555925	Human	1	name
598250124	CV3946121	single nucleotide variant	NM_001204.7(BMPR2):c.2084G>T (p.Gly695Val)	Inborn genetic diseases [RCV005298287]	uncertain significance	2	202555749	202555749	Human	1	name
598250140	CV3946126	single nucleotide variant	NM_001204.7(BMPR2):c.2650C>G (p.Leu884Val)	Inborn genetic diseases [RCV005298290]	uncertain significance	2	202556315	202556315	Human	1	name
598250171	CV3946135	single nucleotide variant	NM_001204.7(BMPR2):c.2684T>C (p.Leu895Pro)	Inborn genetic diseases [RCV005298296]	uncertain significance	2	202556349	202556349	Human	1	name
598250207	CV3946146	single nucleotide variant	NM_001204.7(BMPR2):c.2309G>A (p.Arg770Gln)	Inborn genetic diseases [RCV005298302]	uncertain significance	2	202555974	202555974	Human	1	name
598250211	CV3946147	single nucleotide variant	NM_001204.7(BMPR2):c.1811G>C (p.Ser604Thr)	Inborn genetic diseases [RCV005298303]	uncertain significance	2	202555476	202555476	Human	1	name
598250219	CV3946148	single nucleotide variant	NM_001204.7(BMPR2):c.2149G>A (p.Ala717Thr)	Inborn genetic diseases [RCV005298304]	uncertain significance	2	202555814	202555814	Human	1	name
598250223	CV3946150	single nucleotide variant	NM_001204.7(BMPR2):c.2293T>C (p.Ser765Pro)	Inborn genetic diseases [RCV005298305]	uncertain significance	2	202555958	202555958	Human	1	name
598250231	CV3946154	single nucleotide variant	NM_001204.7(BMPR2):c.2267C>A (p.Thr756Asn)	Inborn genetic diseases [RCV005298307]	uncertain significance	2	202555932	202555932	Human	1	name
598250238	CV3946155	single nucleotide variant	NM_001204.7(BMPR2):c.1028A>G (p.Asn343Ser)	Inborn genetic diseases [RCV005298308]	uncertain significance	2	202530854	202530854	Human	1	name
598250248	CV3946157	single nucleotide variant	NM_001204.7(BMPR2):c.1969C>G (p.Gln657Glu)	Inborn genetic diseases [RCV005298310]	uncertain significance	2	202555634	202555634	Human	1	name
598250254	CV3946159	single nucleotide variant	NM_001204.7(BMPR2):c.2503A>G (p.Thr835Ala)	Inborn genetic diseases [RCV005298311]	uncertain significance	2	202556168	202556168	Human	1	name
8598053	CV23841	single nucleotide variant	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2-related disorder [RCV004549350]\|Primary pulmonary hypertension [RCV002512939]\|Pulmonary arterial hypertension [RCV001003725]\|Pulmonary arterial hypertension [RCV001823867]\|Pulmonary hypertension, primary, 1 [RCV000009347]\|Pulmonary hypertension, primary, 1 ... (more) [RCV004819204]\|not provided [RCV000493405]	pathogenic\|not provided	2	202552773	202552773	Human	4	alternate_id
401919863	CV2796444	single nucleotide variant	NM_001204.7(BMPR2):c.2902G>C (p.Gly968Arg)	BMPR2-related disorder [RCV004550653]	uncertain significance	2	202559731	202559731	Human		trait , alternate_id
401908267	CV2801320	single nucleotide variant	NM_001204.7(BMPR2):c.2982A>C (p.Glu994Asp)	BMPR2-related disorder [RCV004550740]\|Inborn genetic diseases [RCV004963632]	uncertain significance	2	202559811	202559811	Human	2	alternate_id
408379026	CV3504214	single nucleotide variant	NM_001204.7(BMPR2):c.1450T>C (p.Trp484Arg)	BMPR2-related disorder [RCV004728150]	uncertain significance	2	202552752	202552752	Human		trait , alternate_id
12905340	CV414096	microsatellite	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2-related disorder [RCV004551607]\|Pulmonary arterial hypertension [RCV001003650]\|Pulmonary hypertension, primary, 1 [RCV000488762]\|Pulmonary hypertension, primary, 1 [RCV002481547]\|not provided [RCV003324756]	pathogenic\|likely pathogenic	2	202464884	202464885	Human		alternate_id
12905202	CV414329	single nucleotide variant	NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys)	BMPR2-related disorder [RCV004551614]\|Primary pulmonary hypertension [RCV001497470]\|Pulmonary arterial hypertension [RCV004551613]\|Pulmonary hypertension, primary, 1 [RCV000488582]	benign\|likely benign\|uncertain significance	2	202555431	202555431	Human	4	alternate_id
12905305	CV414330	single nucleotide variant	NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter)	BMPR2-related disorder [RCV003315244]\|Primary pulmonary hypertension [RCV005090995]\|Pulmonary hypertension, primary, 1 [RCV000488717]	pathogenic\|likely pathogenic	2	202555436	202555436	Human	3	alternate_id
12905161	CV414036	deletion	NM_001204.6(BMPR2):c.(76+1_77-1)_(*1_?)del	Pulmonary hypertension, primary, 1 [RCV000488533]	pathogenic	2	202464808	202559947	Human	1	name
12905324	CV414041	deletion	NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)del	Pulmonary hypertension, primary, 1 [RCV000488743]	pathogenic	2	202377474	202377551	Human	1	name
12905426	CV414282	deletion	NM_001204.7(BMPR2):c.1277-289_1413+4737del	Pulmonary hypertension, primary, 1 [RCV000488457]	pathogenic	2	202542020	202547182	Human	1	name
21404985	CV801040	deletion	NM_001204.7(BMPR2):c.1277-421_1414-2475del	Pulmonary arterial hypertension [RCV001003887]	likely pathogenic	2	202541890	202550241	Human	2	name
21404986	CV801041	deletion	NM_001204.7(BMPR2):c.1277-305_1414-4736del	Pulmonary arterial hypertension [RCV001003888]	likely pathogenic	2	202542004	202547978	Human	2	name
21404988	CV801043	deletion	NM_001204.7(BMPR2):c.1413+4638_1586+1016del	Pulmonary arterial hypertension [RCV001003889]	likely pathogenic	2	202547085	202553904	Human	2	name
12905348	CV414037	deletion	NM_001204.6(BMPR2):c.(418+1_419-1)_(*1_?)del	Pulmonary hypertension, primary, 1 [RCV000488775]	pathogenic	2	202513718	202559947	Human	1	name
12905119	CV414039	deletion	NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)del	Pulmonary hypertension, primary, 1 [RCV000488478]	pathogenic	2	202376935	202377551	Human	1	name
12905133	CV414042	deletion	NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)del	Pulmonary hypertension, primary, 1 [RCV000488500]	pathogenic	2	202377474	202467690	Human	1	name
12905230	CV414043	deletion	NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)del	Pulmonary hypertension, primary, 1 [RCV000488617]	pathogenic	2	202377474	202513830	Human	1	name
12905162	CV414038	deletion	NM_001204.6(BMPR2):c.(1413+1_1414-1)_(*1_?)del	Pulmonary hypertension, primary, 1 [RCV000488534]	pathogenic	2	202552715	202559947	Human	1	name
12905365	CV414044	deletion	NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)del	Pulmonary hypertension, primary, 1 [RCV000488802]	pathogenic	2	202377474	202530955	Human	1	name
12905366	CV414121	indel	NM_001204.7(BMPR2):c.248-592_413delinsGTAAAGTA	Pulmonary hypertension, primary, 1 [RCV000488803]	pathogenic	2	202466927	202467684	Human		name
8555112	CV23855	deletion	NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del	Pulmonary hypertension, primary, 1 [RCV000009363]\|Pulmonary venoocclusive disease 1 [RCV003984802]	pathogenic	2	202464809	202464979	Human	2	name
11664610	CV284761	indel	NM_001204.7(BMPR2):c.-927_-924delinsGGCGGCGGCGGCG	Pulmonary hypertension, primary, 1 [RCV000407565]	uncertain significance	2	202376548	202376551	Human		name
598250090	CV3946109	single nucleotide variant	NM_001204.7(BMPR2):c.2008C>G (p.Pro670Ala)	Inborn genetic diseases [RCV005298281]	uncertain significance	2	202555673	202555673	Human	1	name

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