Total 256 pathogenic variants reported for Pulmonary arterial hypertension 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) SNV
Germline		 Chr12:51916219 Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Reviewed By Expert Panel
 CA119395 rs_121909284

14 SubmittersRCV000008726RCV000008727RCV000522363RCV002371767
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) SNV
Germline		 Chr12:51916107 Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype
ACVRL1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119397 rs_28936401

12 SubmittersRCV000008733RCV000008734RCV000330901RCV002433448RCV004547469
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) SNV
Germline		 Chr12:51916218 Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119402 rs_121909287

9 SubmittersRCV000008738RCV000008737RCV000199381RCV002362571
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) SNV
Germline		 Chr12:51920831 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
not specified
Pulmonary arterial hypertension
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119404 rs_121909288

10 SubmittersRCV000008740RCV000008739RCV000507762RCV001003756RCV001564363RCV002390099
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) SNV
Germline		 Chr12:51914445 Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119406 rs_28936687

3 SubmittersRCV000008741RCV001001392
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) SNV
Germline		 Chr12:51915483 Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
See cases
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119408 rs_28936688

9 SubmittersRCV000008742RCV000008743RCV001507809RCV001844010RCV002381244
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) SNV
Germline		 Chr12:51916183 Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Single Submitter
 CA119410 rs_121909289

2 SubmittersRCV000008744RCV002345234
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) SNV
Germline		 Chr2:202556360 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278069 rs_137852741

7 SubmittersRCV000009341RCV001003746RCV001376577RCV001823864RCV000763065RCV001810839
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) SNV
Germline		 Chr2:202464950 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA278072 rs_137852742

3 SubmittersRCV000009342RCV001003653
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) SNV
Germline		 Chr2:202467625 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Reviewed By Expert Panel
 CA278075 rs_137852743

5 SubmittersRCV000009344RCV001823865RCV004547471RCV001851760
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) SNV
Germline		 Chr2:202530866 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA278077 rs_137852744

4 SubmittersRCV000009345RCV001823866RCV004547472
NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) SNV
Germline		 Chr2:202552756 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA278079 rs_137852745

2 SubmittersRCV000009346RCV001003724
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) SNV
Germline		 Chr2:202552773 Pathogenic Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension
BMPR2-related disorder
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278081 rs_137852746

10 SubmittersRCV000009347RCV000493405RCV001003725RCV001823867RCV002512939RCV004549350RCV004819204
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) SNV
Germline		 Chr2:202556282 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Condition: not provided
Pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278086 rs_137852748

7 SubmittersRCV000009350RCV001376610RCV001823868RCV003137505RCV001003745
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) SNV
Germline		 Chr2:202552774 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Condition: not provided
Primary pulmonary hypertension
Pulmonary venoocclusive disease 1		 Reviewed By Expert Panel
 CA278089 rs_137852749

10 SubmittersRCV000009351RCV001003726RCV001823869RCV001810840RCV001851761RCV003313915
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) SNV
Germline		 Chr2:202467638 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA278091 rs_137852750

4 SubmittersRCV000009353RCV001823870RCV001003665
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) SNV
Germline		 Chr2:202530820 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278095 rs_137852751

6 SubmittersRCV000498671RCV000009355RCV001376626RCV001003704
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) SNV
Germline		 Chr2:202518831 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, dexfenfluramine-associated
Primary pulmonary hypertension
Condition: not provided
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119933 rs_137852753

8 SubmittersRCV000009357RCV000009358RCV002228023RCV000197776RCV001003683RCV001823871RCV002476949
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) SNV
Germline		 Chr7:5986838 Pathogenic Lynch syndrome
Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Pulmonary valve insufficiency
Pulmonary arterial hypertension
Respiratory insufficiency
Hereditary nonpolyposis colon cancer
Lynch syndrome 4		 Reviewed By Expert Panel
 CA010460 rs_63751422

13 SubmittersRCV000076835RCV000148733RCV000164116RCV000223612RCV000524452RCV000735282RCV003323387RCV003452988
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) SNV
Germline		 Chr18:51047066 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Pulmonary arterial hypertension
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
SMAD4-related disorder		 Criteria Provided
Conflicting Classifications
 CA186263 rs_372316981

15 SubmittersRCV000162438RCV000196213RCV000589285RCV000764159RCV001123230RCV001123231RCV001328507RCV002285148RCV002310723RCV002468936RCV003398830
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) SNV
Germline		 Chr12:5045066 Conflicting classifications of pathogenicity altered potassium channel function
Atrial fibrillation, familial, 7
not specified
Pulmonary arterial hypertension
KCNA5-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA199821 rs_17215409

10 SubmittersRCV000171656RCV000549885RCV001699140RCV002285149RCV003907539RCV001589050
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) SNV
Germline		 Chr16:2317763 Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Diffuse interstitial pulmonary fibrosis
Pulmonary arterial hypertension
Respiratory insufficiency
Pulmonary valve insufficiency
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA203885 rs_149989682

20 SubmittersRCV000185556RCV000224775RCV000615487RCV000735281RCV002284194RCV002372142
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) SNV
Germline		 Chr2:202467566 Conflicting classifications of pathogenicity Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications
 CA320754 rs_863223425

4 SubmittersRCV000196343RCV000488549RCV001823879RCV003595882
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) SNV
Germline		 Chr2:202467648 Pathogenic/Likely pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323070 rs_863223426

5 SubmittersRCV000198552RCV000488669RCV001003667RCV001376542RCV001823880
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) SNV
Germline		 Chr2:202519046 Pathogenic Condition: not provided
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 CA324555 rs_863223419

2 SubmittersRCV000200009RCV001823875
NM_001204.7(BMPR2):c.853-2A>G SNV
Germline		 Chr2:202520085 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 CA324144 rs_863223424

5 SubmittersRCV000199603RCV000242870RCV001003696RCV001823878
NM_001204.7(BMPR2):c.1128+1G>A SNV
Germline		 Chr2:202530955 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322054 rs_863223420

6 SubmittersRCV000197596RCV000323481RCV001823877RCV002229023
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) SNV
Germline		 Chr12:51920832 Pathogenic Condition: not provided
Epistaxis
Pulmonary arterial hypertension
Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
not specified
Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323134 rs_863223408

9 SubmittersRCV000198604RCV000414952RCV000502469RCV000488871RCV000506673RCV001003757RCV002390510
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) SNV
Germline		 Chr2:202513739 Pathogenic Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351778 rs_869025366

7 SubmittersRCV000208112RCV000489453RCV001003673RCV001376625RCV002500667RCV001823881
NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro) SNV
Germline		 Chr2:202520135 Pathogenic Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA10576586 rs_876657748

3 SubmittersRCV000215404RCV000488745RCV004547518
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) SNV
Germline		 Chr9:136515323 Conflicting classifications of pathogenicity Condition: not provided
Adams-Oliver syndrome 5
Adams-Oliver syndrome 2
Aortic valve disorder
Pulmonary arterial hypertension
Aortic valve disease 1
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA5341549 rs_201077220

10 SubmittersRCV000519623RCV000555279RCV001535730RCV002285156RCV002272196RCV002311210
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) SNV
Germline		 Chr2:202377490 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA10587991 rs_886039219

3 SubmittersRCV000245061RCV001823882
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) SNV
Germline		 Chr9:127829770 Pathogenic Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588468 rs_886039506

10 SubmittersRCV000255761RCV000545627RCV000791375RCV001003750RCV002436090
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) SNV
Germline		 Chr2:202518837 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602824 rs_886041324

5 SubmittersRCV000385546RCV000488654RCV001003684RCV001823883RCV003389326
NM_001204.7(BMPR2):c.1128+1G>C SNV
Germline		 Chr2:202530955 Pathogenic Condition: not provided
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602826 rs_863223420

3 SubmittersRCV000273960RCV001823884RCV002229735
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) SNV
Germline		 Chr10:86923618 Conflicting classifications of pathogenicity Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
Pulmonary arterial hypertension associated with congenital heart disease
not specified
Juvenile polyposis syndrome
Polyposis syndrome, hereditary mixed, 2		 Criteria Provided
Conflicting Classifications
 CA5585743 rs_376651641

11 SubmittersRCV000486559RCV000462223RCV000561192RCV000664164RCV001526929RCV001358800RCV003475928
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) SNV
Germline/somatic		 Chr12:51920816 Pathogenic Condition: not provided
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042853 rs_1057517944

12 SubmittersRCV000414291RCV000488776RCV000513497RCV000533545RCV002392938RCV003993947
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) SNV
Germline		 Chr2:202542432 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16610567 rs_1060502576

4 SubmittersRCV001003720RCV000468461RCV000763064RCV002230088
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) SNV
Germline		 Chr2:202520195 Pathogenic Pulmonary hypertension, primary, 1
Condition: not provided
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16610660 rs_1060502581

4 SubmittersRCV000461193RCV001810954RCV001376634RCV001003700
NM_001204.7(BMPR2):c.968-5A>G SNV
Germline		 Chr2:202530789 Pathogenic Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Reviewed By Expert Panel
 CA16610662 rs_1060502584

5 SubmittersRCV001331819RCV000459115RCV002221541RCV004551530RCV002230090
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) SNV
Germline		 Chr9:136523065 Conflicting classifications of pathogenicity Adams-Oliver syndrome 5
Condition: not provided
Aortic valve disease 1
Pulmonary arterial hypertension
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA5342134 rs_375065108

6 SubmittersRCV000466090RCV001508285RCV002270502RCV002285159RCV002348312
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) SNV
Germline		 Chr12:51916108 Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614168 rs_1060503248

10 SubmittersRCV000467491RCV000488746RCV001576840RCV002436455
NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter) SNV
Germline		 Chr2:202377501 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350396608 rs_1085307149

2 SubmittersRCV000488550RCV001004025
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter) SNV
Germline		 Chr2:202377513 Pathogenic Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA350396653 rs_1085307152

2 SubmittersRCV001823906RCV000488586
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) SNV
Germline		 Chr2:202377521 Pathogenic Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA350396688 rs_1085307153

2 SubmittersRCV001823907RCV000488715
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) SNV
Germline		 Chr2:202377522 Pathogenic Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension
BMPR2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350396691 rs_1085307154

5 SubmittersRCV000488825RCV002230968RCV001003644RCV004551606
NM_001204.7(BMPR2):c.76+2T>C SNV
Germline		 Chr2:202377552 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350396817 rs_1085307156

2 SubmittersRCV000488560RCV001823908
NM_001204.7(BMPR2):c.76+5G>A SNV
Germline		 Chr2:202377555 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA645293859 rs_1085307157

2 SubmittersRCV000488747RCV001003647
NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg) SNV
Germline		 Chr2:202464832 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350399040 rs_1085307163

3 SubmittersRCV000488668RCV001003649
NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg) SNV
Germline		 Chr2:202464857 Pathogenic Pulmonary arterial hypertension associated with congenital heart disease No Assertion Criteria Provided
 CA350399166 rs_1085307167

1 SubmittersRCV000488460
NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp) SNV
Germline		 Chr2:202464872 Pathogenic Pulmonary arterial hypertension associated with congenital heart disease No Assertion Criteria Provided
 CA350399236 rs_1085307168

1 SubmittersRCV000488593
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) SNV
Germline		 Chr2:202464932 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 CA350399384 rs_1085307177

4 SubmittersRCV000488664RCV001823909RCV001383602RCV001003651
NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp) SNV
Germline		 Chr2:202464935 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350399390 rs_1085307180

2 SubmittersRCV000488700RCV001003652
NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter) SNV
Germline		 Chr2:202464976 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA350399481 rs_1085307184

2 SubmittersRCV001003654RCV000488823
NM_001204.7(BMPR2):c.247+1G>A SNV
Germline		 Chr2:202464980 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350399491 rs_1085307188

2 SubmittersRCV000488631RCV001003655
NM_001204.7(BMPR2):c.247+6T>G SNV
Germline		 Chr2:202464985 Likely pathogenic Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA645294003 rs_1085307191

3 SubmittersRCV000488640RCV002528225RCV004720261
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter) SNV
Germline		 Chr2:202467526 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension associated with another disease
Pulmonary arterial hypertension associated with connective tissue disease		 No Assertion Criteria Provided
 CA350399520 rs_1085307198

2 SubmittersRCV000488742RCV001823910
NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg) SNV
Germline		 Chr2:202467551 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA350399577 rs_1085307203

2 SubmittersRCV001003658RCV000488733
NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly) SNV
Germline		 Chr2:202467551 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350399576 rs_1085307203

2 SubmittersRCV000488494RCV001003659
NM_001204.7(BMPR2):c.304A>G (p.Thr102Ala) SNV
Germline		 Chr2:202467575 Pathogenic Pulmonary arterial hypertension associated with congenital heart disease No Assertion Criteria Provided
 CA350399632 rs_1085307206

1 SubmittersRCV000488524
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) SNV
Germline		 Chr2:202467621 Pathogenic Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350399730 rs_1085307215

4 SubmittersRCV000488729RCV001376585RCV001823911RCV000507538
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) SNV
Germline		 Chr2:202467624 Likely pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 CA350399738 rs_1085307216

3 SubmittersRCV001810973RCV000488604RCV001823912
NM_001204.7(BMPR2):c.418+5G>A SNV
Germline		 Chr2:202467694 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA645294022 rs_1085307229

2 SubmittersRCV000488829RCV001003672
NM_001204.7(BMPR2):c.556A>G (p.Met186Val) SNV
Germline		 Chr2:202514914 Pathogenic Pulmonary arterial hypertension associated with congenital heart disease No Assertion Criteria Provided
 CA350338798 rs_1085307244

1 SubmittersRCV000488480
NM_001204.7(BMPR2):c.852+1G>A SNV
Germline		 Chr2:202519053 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350340660 rs_1085307266

2 SubmittersRCV000488698RCV001823913
NM_001204.7(BMPR2):c.853-1G>A SNV
Germline		 Chr2:202520086 Pathogenic/Likely pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350340671 rs_1085307267

3 SubmittersRCV001003697RCV000488671RCV001823914
NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter) SNV
Germline		 Chr2:202520094 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350340688 rs_576091247

2 SubmittersRCV000488830RCV001003698
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) SNV
Germline		 Chr2:202520142 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Condition: not provided		 Reviewed By Expert Panel
 CA2061247 rs_200948870

5 SubmittersRCV000488504RCV004720262RCV002481548RCV002223216
NM_001204.7(BMPR2):c.968-1G>T SNV
Germline		 Chr2:202530793 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA350341230 rs_1085307282

2 SubmittersRCV001003702RCV000488835
NM_001204.7(BMPR2):c.992A>G (p.His331Arg) SNV
Germline		 Chr2:202530818 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350341322 rs_1085307285

2 SubmittersRCV000488462RCV001003703
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) SNV
Germline		 Chr2:202530865 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350341421 rs_1085307290

3 SubmittersRCV001003706RCV000488554RCV001360167
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) SNV
Germline		 Chr2:202530952 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341605 rs_1085307301

3 SubmittersRCV000488734RCV004720264RCV001823915
NM_001204.7(BMPR2):c.1156G>A (p.Glu386Lys) SNV
Germline		 Chr2:202532612 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341736 rs_1085307306

2 SubmittersRCV000488637RCV004777685
NM_001204.7(BMPR2):c.1156G>C (p.Glu386Gln) SNV
Germline		 Chr2:202532612 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341737 rs_1085307306

2 SubmittersRCV000488820RCV004777686
NM_001204.7(BMPR2):c.1157A>C (p.Glu386Ala) SNV
Germline		 Chr2:202532613 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341739 rs_1085307307

2 SubmittersRCV000488538RCV004777687
NM_001204.7(BMPR2):c.1157A>G (p.Glu386Gly) SNV
Germline		 Chr2:202532613 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341740 rs_1085307307

2 SubmittersRCV000488666RCV004777688
NM_001204.7(BMPR2):c.1157A>T (p.Glu386Val) SNV
Germline		 Chr2:202532613 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341741 rs_1085307307

2 SubmittersRCV000488866RCV004777689
NM_001204.7(BMPR2):c.1171G>A (p.Ala391Thr) SNV
Germline		 Chr2:202532627 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341771 rs_1085307308

2 SubmittersRCV000488515RCV004777690
NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter) SNV
Germline		 Chr2:202532677 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA350341890 rs_1085307315

2 SubmittersRCV001003712RCV000488502
NM_001204.7(BMPR2):c.1228G>A (p.Gly410Arg) SNV
Germline		 Chr2:202532684 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341903 rs_1085307316

2 SubmittersRCV000488583RCV004822074
NM_001204.7(BMPR2):c.1276+1G>A SNV
Germline		 Chr2:202532733 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension associated with congenital heart disease		 Criteria Provided
Single Submitter
 CA2061325 rs_767070218

2 SubmittersRCV000488690RCV000664166
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter) SNV
Germline		 Chr2:202542431 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350343005 rs_1085307346

2 SubmittersRCV000488571RCV001823916
NM_001204.7(BMPR2):c.1413+1G>A SNV
Germline		 Chr2:202542448 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350343048 rs_1085307349

4 SubmittersRCV000488765RCV001003721RCV001823917
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter) SNV
Germline		 Chr2:202552726 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350344424 rs_1085307352

3 SubmittersRCV000488614RCV001003722
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) SNV
Germline		 Chr2:202552753 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Condition: not provided
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350344485 rs_1085307355

4 SubmittersRCV000488542RCV001823918RCV003231623RCV001865505
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) SNV
Germline		 Chr2:202552762 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350344525 rs_1085307358

2 SubmittersRCV000488600RCV001823919
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter) SNV
Germline		 Chr2:202552785 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350344615 rs_1085307360

2 SubmittersRCV000488476RCV001823920
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) SNV
Germline		 Chr2:202555415 Pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Single Submitter
 CA350346158 rs_765887545

3 SubmittersRCV001003728RCV000488855RCV003147483
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter) SNV
Germline		 Chr2:202555646 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350347016 rs_759293027

2 SubmittersRCV000488753RCV001823921
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) SNV
Germline		 Chr2:202556373 Pathogenic/Likely pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA2061573 rs_373725296

2 SubmittersRCV001003747RCV000488676
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter) SNV
Germline		 Chr2:202556395 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350349536 rs_1085307400

2 SubmittersRCV000488862RCV001823924
NM_001114753.3(ENG):c.1742-22T>C SNV
Germline		 Chr9:127816075 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA467474697 rs_1085307434

1 SubmittersRCV000488489
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) SNV
Germline		 Chr12:51913236 Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided
Cardiovascular phenotype
See cases
ACVRL1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384897887 rs_1085307405

8 SubmittersRCV000488479RCV001050243RCV002244957RCV002420248RCV004584390RCV004551616
NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu) SNV
Germline		 Chr12:51914041 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA384899778 rs_886043123

1 SubmittersRCV000488655
NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg) SNV
Germline		 Chr12:51914050 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA384899827 rs_1085307407

1 SubmittersRCV000488786
NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly) SNV
Germline		 Chr12:51915240 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA384900328 rs_1085307408

1 SubmittersRCV000488626
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) SNV
Germline		 Chr12:51915270 Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384900434 rs_1085307409

4 SubmittersRCV000488783RCV002431425RCV003509546RCV004017643
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) SNV
Germline		 Chr12:51916042 Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
not specified
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384901981 rs_1085307415

4 SubmittersRCV000488852RCV000507211RCV000525054RCV002404279
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) SNV
Germline		 Chr12:51916111 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Single Submitter
 CA384902433 rs_1085307416

2 SubmittersRCV000488853RCV000792743
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) SNV
Germline		 Chr12:51916182 Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Single Submitter
 CA384902882 rs_1085307418

2 SubmittersRCV000488764RCV002496883
NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu) SNV
Germline		 Chr12:51916183 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA384902886 rs_121909289

1 SubmittersRCV000488470
NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val) SNV
Germline		 Chr12:51919018 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA384903799 rs_1085307420

1 SubmittersRCV000488738
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) SNV
Germline		 Chr12:51919062 Conflicting classifications of pathogenicity Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384904129 rs_1085307421

3 SubmittersRCV000488495RCV000814063RCV001755727
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) SNV
Germline		 Chr12:51920766 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384905272 rs_1085307422

4 SubmittersRCV000488647RCV000756968RCV002527017RCV002395184
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) SNV
Germline		 Chr12:51920831 Pathogenic/Likely pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1		 No Assertion Criteria Provided
 CA384905800 rs_121909288

2 SubmittersRCV001003755RCV000488804
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) SNV
Germline		 Chr12:51920841 Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Single Submitter
 CA384905912 rs_1085307428

2 SubmittersRCV000488579RCV002272257
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) SNV
Germline		 Chr12:51920849 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Condition: not provided
Hereditary factor VIII deficiency disease		 Reviewed By Expert Panel
 CA384906013 rs_1085307429

6 SubmittersRCV000488710RCV001262033RCV002395186RCV003480652RCV004813103
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) SNV
Germline		 Chr10:86917170 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Condition: not provided
Carcinoma of colon
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
not specified		 Criteria Provided
Conflicting Classifications
 CA5585590 rs_747728399

9 SubmittersRCV000564877RCV000635447RCV000985361RCV001356552RCV001823925RCV004596277
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) SNV
Germline		 Chr9:136502059 Conflicting classifications of pathogenicity Condition: not provided
Adams-Oliver syndrome 5
Familial thoracic aortic aneurysm and aortic dissection
Aortic valve disease 1
Pulmonary arterial hypertension
NOTCH1-related disorder		 Criteria Provided
Conflicting Classifications
 CA5340279 rs_201779159

7 SubmittersRCV000594908RCV000655262RCV002315892RCV002270717RCV002285163RCV004530694
NM_001321120.2(TBX4):c.702+1G>A SNV
Germline		 Chr17:61478780 Conflicting classifications of pathogenicity Condition: not provided
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary hypertension, primary, 1
TBX4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1555883342

4 SubmittersRCV000660521RCV000664178RCV001829824RCV004547833
NM_001204.7(BMPR2):c.529+1G>A SNV
Germline		 Chr2:202513830 Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553508187

2 SubmittersRCV000664169RCV001823926RCV002499140
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) SNV
Germline		 Chr2:202556018 Conflicting classifications of pathogenicity Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications
 rs_773135384

3 SubmittersRCV000664170RCV002507147RCV003596487
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter) SNV
Germline		 Chr13:36879486 Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_146583835

2 SubmittersRCV000664174RCV002508245
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) SNV
Germline		 Chr17:61465830 Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease Criteria Provided
Single Submitter
 rs_1555882009

1 SubmittersRCV000664176
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) SNV
Germline		 Chr17:61479927 Conflicting classifications of pathogenicity Pulmonary arterial hypertension associated with congenital heart disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1555883469

2 SubmittersRCV000664181RCV003718276
NM_001089.3(ABCA3):c.614-2A>G SNV
Germline		 Chr16:2319842 Likely pathogenic Pulmonary arterial hypertension
Respiratory distress
Neonatal respiratory distress
See cases		 Criteria Provided
Single Submitter
 rs_773223403

1 SubmittersRCV000735347RCV003156125
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) SNV
Germline		 Chr16:70874437 Likely pathogenic Patent ductus arteriosus
Pulmonary arterial hypertension
Respiratory failure requiring assisted ventilation		 Criteria Provided
Single Submitter
 rs_1567744830

1 SubmittersRCV000735314
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) SNV
Germline		 Chr12:51915482 Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1592224412

3 SubmittersRCV000812604RCV001003754RCV002381809
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) SNV
Germline		 Chr2:202467522 Pathogenic Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 rs_1085307197

3 SubmittersRCV001003656RCV001823932
NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter) SNV
Unknown		 Chr2:202467559 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_749485755

1 SubmittersRCV001003660
NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg) SNV
Unknown		 Chr2:202467617 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574464160

1 SubmittersRCV001003663
NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly) SNV
Unknown		 Chr2:202467620 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1085307214

1 SubmittersRCV001003664
NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter) SNV
Unknown		 Chr2:202513770 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574485996

1 SubmittersRCV001003675
NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter) SNV
Unknown		 Chr2:202518993 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1414031345

1 SubmittersRCV001003691
NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter) SNV
Unknown		 Chr2:202519043 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574488490

1 SubmittersRCV001003693
NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter) SNV
Unknown		 Chr2:202519046 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_863223419

1 SubmittersRCV001003694
NM_001204.7(BMPR2):c.917A>C (p.His306Pro) SNV
Unknown		 Chr2:202520151 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574489046

1 SubmittersRCV001003699
NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg) SNV
Germline		 Chr2:202532684 Likely pathogenic Pulmonary arterial hypertension Reviewed By Expert Panel
 rs_1085307316

2 SubmittersRCV001003713
NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter) SNV
Unknown		 Chr2:202532698 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574494632

1 SubmittersRCV001003714
NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter) SNV
Unknown		 Chr2:202552734 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574505253

1 SubmittersRCV001003723
NM_001204.7(BMPR2):c.1772G>A (p.Arg591Gln) SNV
Unknown		 Chr2:202555437 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_371174955

1 SubmittersRCV001003729
NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter) SNV
Unknown		 Chr2:202555679 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574506790

1 SubmittersRCV001003733
NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) SNV
Germline		 Chr2:202555823 Pathogenic Primary pulmonary hypertension
Pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 rs_1574506914

2 SubmittersRCV002549222RCV001003735
NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) SNV
Unknown		 Chr2:202556165 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574507215

1 SubmittersRCV001003739
NM_001204.7(BMPR2):c.2542C>T (p.Gln848Ter) SNV
Unknown		 Chr2:202556207 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574507272

1 SubmittersRCV001003741
NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter) SNV
Unknown		 Chr2:202556213 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574507276

1 SubmittersRCV001003742
NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln) SNV
Unknown		 Chr2:26727927 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_398123042

1 SubmittersRCV001004022
NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu) SNV
Unknown		 Chr9:127817156 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_374644720

1 SubmittersRCV001003748
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) SNV
Germline		 Chr12:51913579 Pathogenic Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Single Submitter
 rs_1592222308

2 SubmittersRCV001003751RCV002320218
NM_000020.3(ACVRL1):c.647T>G (p.Val216Gly) SNV
Unknown		 Chr12:51914460 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1592223392

1 SubmittersRCV001003752
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) SNV
Germline		 Chr12:51920832 Pathogenic/Likely pathogenic Pulmonary arterial hypertension
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_863223408

3 SubmittersRCV001003758RCV001060097RCV004792607
NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter) SNV
Unknown		 Chr17:61456611 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1397811125

1 SubmittersRCV001003778
NM_001204.7(BMPR2):c.76+1G>A SNV
Germline		 Chr2:202377551 Likely pathogenic Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 rs_1085307155

2 SubmittersRCV001003645RCV001823931
NM_001204.7(BMPR2):c.76+2T>G SNV
Unknown		 Chr2:202377552 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1085307156

1 SubmittersRCV001003646
NM_001204.7(BMPR2):c.418+1G>T SNV
Unknown		 Chr2:202467690 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1085307226

1 SubmittersRCV001003671
NM_001204.7(BMPR2):c.621+1G>A SNV
Unknown		 Chr2:202514980 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1553508321

1 SubmittersRCV001003680
NM_001204.7(BMPR2):c.621+1G>C SNV
Unknown		 Chr2:202514980 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1553508321

1 SubmittersRCV001003681
NM_001204.7(BMPR2):c.622-1G>T SNV
Unknown		 Chr2:202518821 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574488277

1 SubmittersRCV001003682
NM_001204.7(BMPR2):c.1128+2T>G SNV
Unknown		 Chr2:202530956 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_1574493841

1 SubmittersRCV001003707
NM_001204.7(BMPR2):c.1277-2A>G SNV
Germline		 Chr2:202542309 Pathogenic Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 rs_1574499954

2 SubmittersRCV001003717RCV002549221
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) SNV
Germline		 Chr4:95104435 Conflicting classifications of pathogenicity Brachydactyly
Acromesomelic dysplasia 3
Type A2 brachydactyly
Acromesomelic dysplasia 3
Idiopathic pulmonary arterial hypertension
Condition: not provided
BMPR1B-related disorder		 Criteria Provided
Conflicting Classifications
 rs_150974461

6 SubmittersRCV001155861RCV001220771RCV001334871RCV001683739RCV001776122RCV004754696
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter) SNV
Germline		 Chr3:194406005 Conflicting classifications of pathogenicity Pulmonary arterial hypertension
Pulmonary hypertension, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200914446

3 SubmittersRCV001807428RCV002246430RCV002569007
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met) SNV
Germline		 Chr3:194431004 Likely pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, autosomal recessive		 Criteria Provided
Single Submitter
 rs_1489314131

2 SubmittersRCV001807424RCV002246426
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) SNV
Germline		 Chr3:194433790 Likely pathogenic Pulmonary arterial hypertension
Pulmonary hypertension, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2108829926

3 SubmittersRCV001807426RCV002246428
NM_001204.7(BMPR2):c.419-1G>T SNV
Germline		 Chr2:202513718 Likely pathogenic Drug- or toxin-induced pulmonary arterial hypertension
Pulmonary arterial hypertension associated with another disease
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 rs_2106002050

2 SubmittersRCV001823971RCV002542751
NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter) SNV
Germline		 Chr2:202552826 Pathogenic Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Single Submitter
 rs_2106042229

2 SubmittersRCV001824005RCV004720948
NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter) SNV
Unknown		 Chr2:202514975 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 rs_2106003241

1 SubmittersRCV001842230
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter) SNV
Unknown		 Chr8:54459064 Pathogenic Pulmonary arterial hypertension Criteria Provided
Single Submitter
 rs_2129277991

1 SubmittersRCV002077365
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) SNV
Germline		 Chr19:15179114 Conflicting classifications of pathogenicity Condition: not provided
Pulmonary arterial hypertension
Inborn genetic diseases
NOTCH3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_35031555

6 SubmittersRCV002170008RCV002285182RCV002551337RCV004538782
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) SNV
Germline		 Chr9:136511260 Conflicting classifications of pathogenicity Pulmonary arterial hypertension
Condition: not provided
Adams-Oliver syndrome 5		 Criteria Provided
Conflicting Classifications
 rs_760376139

3 SubmittersRCV002285185RCV002244509RCV003101320
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter) SNV
Germline		 Chr15:39943426 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided

1 SubmittersRCV002285235
NM_001204.7(BMPR2):c.2530C>T (p.Gln844Ter) SNV
Germline		 Chr2:202556195 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided

1 SubmittersRCV002285242
NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter) SNV
Unknown		 Chr2:202556001 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided

1 SubmittersRCV002306252