Bmpr2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

1001 records found for search term Bmpr2

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

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
126757092	CV1024074	single nucleotide variant	NM_001204.7(BMPR2):c.1927A>G (p.Thr643Ala)	Inborn genetic diseases [RCV005298802]\|Primary pulmonary hypertension [RCV001339468]	benign\|uncertain significance	2	202555592	202555592	Human	3	name
127254103	CV1055179	single nucleotide variant	NM_001204.7(BMPR2):c.1472G>T (p.Arg491Leu)	Primary pulmonary hypertension [RCV001379091]	pathogenic\|likely pathogenic	2	202552774	202552774	Human	2	name
127256483	CV1059135	single nucleotide variant	NM_001204.7(BMPR2):c.1102G>T (p.Glu368Ter)	Primary pulmonary hypertension [RCV001386556]	pathogenic	2	202530928	202530928	Human	2	name
12843921	CV366066	single nucleotide variant	NM_001204.7(BMPR2):c.1427T>G (p.Leu476Arg)	not provided [RCV000437087]	uncertain significance	2	202552729	202552729	Human		name
12887104	CV392288	single nucleotide variant	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	Primary pulmonary hypertension [RCV002230088]\|Pulmonary arterial hypertension [RCV001003720]\|Pulmonary hypertension, primary, 1 [RCV000468461]\|Pulmonary hypertension, primary, 1 [RCV000763064]	pathogenic	2	202542432	202542432	Human	4	name
12905146	CV414256	single nucleotide variant	NM_001204.7(BMPR2):c.1171G>A (p.Ala391Thr)	Pulmonary arterial hypertension [RCV004777690]\|Pulmonary hypertension, primary, 1 [RCV000488515]	pathogenic\|likely pathogenic	2	202532627	202532627	Human	3	name
12905135	CV414263	single nucleotide variant	NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter)	Pulmonary arterial hypertension [RCV001003712]\|Pulmonary hypertension, primary, 1 [RCV000488502]	pathogenic	2	202532677	202532677	Human	3	name
12905103	CV414266	single nucleotide variant	NM_001204.7(BMPR2):c.1243G>T (p.Glu415Ter)	Pulmonary hypertension, primary, 1 [RCV000488454]	pathogenic	2	202532699	202532699	Human	1	name
12905149	CV414272	single nucleotide variant	NM_001204.7(BMPR2):c.1257A>T (p.Arg419Ser)	Pulmonary arterial hypertension [RCV004822075]\|Pulmonary hypertension, primary, 1 [RCV000488519]	pathogenic\|uncertain significance	2	202532713	202532713	Human	3	name
12905181	CV414291	single nucleotide variant	NM_001204.7(BMPR2):c.1346T>G (p.Met449Arg)	Primary pulmonary hypertension [RCV005090992]\|Pulmonary hypertension, primary, 1 [RCV000488557]	pathogenic\|likely pathogenic	2	202542380	202542380	Human	3	name
12905117	CV414315	single nucleotide variant	NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter)	Pulmonary arterial hypertension [RCV001823920]\|Pulmonary hypertension, primary, 1 [RCV000488476]	pathogenic\|not provided	2	202552785	202552785	Human	3	name
12905147	CV414320	single nucleotide variant	NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter)	Primary pulmonary hypertension [RCV002528227]\|Pulmonary hypertension, primary, 1 [RCV000488517]	pathogenic	2	202552827	202552827	Human	3	name
12905124	CV414333	single nucleotide variant	NM_001204.7(BMPR2):c.1969C>T (p.Gln657Ter)	Pulmonary hypertension, primary, 1 [RCV000488485]	pathogenic	2	202555634	202555634	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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message