Total 270 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

15 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

13 SubmittersRCV000008733RCV000008734RCV000330901RCV002433448RCV004547469
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) SNV
Germline		 Chr12:51916218 Pathogenic/Likely 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
 CA119402 rs_121909287

9 SubmittersRCV000008737RCV000008738RCV000199381RCV002362571
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) SNV
Germline		 Chr12:51920831 Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension
not specified
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119404 rs_121909288

10 SubmittersRCV000008739RCV000008740RCV001003756RCV000507762RCV001564363RCV002390099
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 Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119410 rs_121909289

3 SubmittersRCV000008744RCV002345234RCV005089210
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) SNV
Germline		 Chr2:202556360 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
Condition: not provided
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278069 rs_137852741

8 SubmittersRCV000009341RCV000763065RCV001003746RCV001376577RCV001810839RCV001823864
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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA278075 rs_137852743

5 SubmittersRCV000009344RCV001823865RCV001851760RCV004547471
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) SNV
Germline		 Chr2:202530866 Likely pathogenic Pulmonary hypertension, primary, 1
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Reviewed By Expert Panel
 CA278077 rs_137852744

5 SubmittersRCV000009345RCV001823866RCV004547472RCV005025043
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
Pulmonary arterial hypertension
Primary pulmonary hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278086 rs_137852748

8 SubmittersRCV000009350RCV001003745RCV001376610RCV001823868RCV003137505RCV005025044
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) SNV
Germline		 Chr2:202552774 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Condition: not provided
Primary pulmonary hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Pulmonary venoocclusive disease 1		 Reviewed By Expert Panel
 CA278089 rs_137852749

10 SubmittersRCV000009351RCV001003726RCV001810840RCV001851761RCV001823869RCV003313915
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 SubmittersRCV000009353RCV001003665RCV001823870
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) SNV
Germline		 Chr2:202530820 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278095 rs_137852751

6 SubmittersRCV000498671RCV000009355RCV001003704RCV001376626
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) SNV
Germline		 Chr2:202518831 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, dexfenfluramine-associated
Condition: not provided
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119933 rs_137852753

9 SubmittersRCV000009357RCV000009358RCV000197776RCV001003683RCV001823871RCV002476949RCV002228023
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) SNV
Germline		 Chr10:86921568 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Pulmonary arterial hypertension
Condition: not provided
Polyposis syndrome, hereditary mixed, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA164567 rs_587781522

13 SubmittersRCV000129512RCV002228646RCV005359206RCV000590666RCV003474750RCV005229959
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
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Myhre syndrome
Pulmonary arterial hypertension
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
SMAD4-related disorder
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Familial pancreatic carcinoma
Juvenile polyposis syndrome		 Criteria Provided
Conflicting Classifications
 CA186263 rs_372316981

16 SubmittersRCV000162438RCV000196213RCV000764159RCV000589285RCV001123230RCV001328507RCV001123231RCV002285148RCV002310723RCV002468936RCV003398830RCV005394569
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) SNV
Germline		 Chr12:5045066 Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
altered potassium channel function
not specified
Condition: not provided
Pulmonary arterial hypertension
KCNA5-related disorder		 Criteria Provided
Conflicting Classifications
 CA199821 rs_17215409

10 SubmittersRCV000549885RCV000171656RCV001699140RCV001589050RCV002285149RCV003907539
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) SNV
Germline		 Chr11:17443261 Conflicting classifications of pathogenicity not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Condition: not provided
ABCC8-related disorder
Inborn genetic diseases
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA207378 rs_117874766

11 SubmittersRCV000193705RCV000360233RCV000303097RCV000396751RCV001279195RCV001336811RCV001546216RCV004734847RCV002514096RCV004558438RCV005365113
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) SNV
Germline		 Chr11:17448596 Conflicting classifications of pathogenicity not specified
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Condition: not provided
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Hypoglycemia
ABCC8-related disorder
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA205176 rs_67254669

17 SubmittersRCV000192390RCV000666629RCV000763720RCV000710372RCV001272242RCV001336810RCV001102903RCV001102904RCV001449652RCV003491936RCV004530090RCV005042408RCV005361103
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
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323070 rs_863223426

5 SubmittersRCV000198552RCV001376542RCV000488669RCV001003667RCV001823880
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
Pulmonary arterial hypertension
Epistaxis
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
not specified
Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323134 rs_863223408

10 SubmittersRCV000198604RCV000414952RCV000488871RCV000506673RCV000502469RCV001003757RCV002390510
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) SNV
Germline		 Chr10:86921588 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile polyposis syndrome
BMPR1A-related disorder
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA338403 rs_576247658

12 SubmittersRCV000213771RCV000589484RCV001293425RCV003927859RCV005365130
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) SNV
Germline		 Chr2:202513739 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
Condition: not provided
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 SubmittersRCV000208112RCV001003673RCV001376625RCV000489453RCV002500667RCV001823881
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
Pulmonary arterial hypertension
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588468 rs_886039506

10 SubmittersRCV000255761RCV000545627RCV001003750RCV000791375RCV002436090
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
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602824 rs_886041324

7 SubmittersRCV000385546RCV000488654RCV001003684RCV001823883RCV003389326RCV005090327
NM_001204.7(BMPR2):c.1128+1G>C SNV
Germline		 Chr2:202530955 Pathogenic Condition: not provided
Idiopathic and/or familial pulmonary arterial hypertension
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 Juvenile polyposis syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Pulmonary arterial hypertension associated with congenital heart disease
Polyposis syndrome, hereditary mixed, 2		 Criteria Provided
Conflicting Classifications
 CA5585743 rs_376651641

11 SubmittersRCV001358800RCV000462223RCV000486559RCV001526929RCV000561192RCV000664164RCV003475928
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) SNV
Germline		 Chr12:51920816 Pathogenic Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042853 rs_1057517944

12 SubmittersRCV000414291RCV000533545RCV000488776RCV002392938RCV003993947
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) SNV
Germline		 Chr2:202542432 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16610567 rs_1060502576

4 SubmittersRCV000468461RCV000763064RCV002230088RCV001003720
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) SNV
Germline		 Chr2:202520195 Pathogenic Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension
Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16610660 rs_1060502581

6 SubmittersRCV000461193RCV001376634RCV001003700RCV001810954RCV005027523
NM_001204.7(BMPR2):c.968-5A>G SNV
Germline		 Chr2:202530789 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension
Condition: not provided
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA16610662 rs_1060502584

5 SubmittersRCV000459115RCV001331819RCV002230090RCV002221541RCV004551530
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) SNV
Germline		 Chr9:136523065 Conflicting classifications of pathogenicity Adams-Oliver syndrome 5
Condition: not provided
Pulmonary arterial hypertension
Aortic valve disease 1
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 CA5342134 rs_375065108

6 SubmittersRCV000466090RCV001508285RCV002285159RCV002270502RCV002348312
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
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614168 rs_1060503248

11 SubmittersRCV000467491RCV000488746RCV002436455RCV001576840
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg) SNV
Germline		 Chr10:86921567 Conflicting classifications of pathogenicity Juvenile polyposis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Pulmonary arterial hypertension
Polyposis syndrome, hereditary mixed, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA16619009 rs_1064795593

8 SubmittersRCV000692348RCV000483970RCV001010325RCV005355957RCV004568194RCV003321632
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 hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350396653 rs_1085307152

2 SubmittersRCV000488586RCV001823906
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) SNV
Germline		 Chr2:202377521 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350396688 rs_1085307153

3 SubmittersRCV000488715RCV001823907RCV005090987
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) SNV
Germline		 Chr2:202377522 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
BMPR2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350396691 rs_1085307154

5 SubmittersRCV000488825RCV001003644RCV002230968RCV004551606
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.200A>G (p.Tyr67Cys) SNV
Germline		 Chr2:202464932 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 CA350399384 rs_1085307177

4 SubmittersRCV000488664RCV001003651RCV001383602RCV001823909
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 hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350399481 rs_1085307184

2 SubmittersRCV000488823RCV001003654
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
not specified
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350399730 rs_1085307215

4 SubmittersRCV000488729RCV000507538RCV001376585RCV001823911
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) SNV
Germline		 Chr2:202467624 Likely pathogenic Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Criteria Provided
Single Submitter
 CA350399738 rs_1085307216

3 SubmittersRCV000488604RCV001810973RCV001823912
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
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350340660 rs_1085307266

3 SubmittersRCV000488698RCV001823913RCV005090988
NM_001204.7(BMPR2):c.853-1G>A SNV
Germline		 Chr2:202520086 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350340671 rs_1085307267

3 SubmittersRCV000488671RCV001003697RCV001823914
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 venoocclusive disease 1
Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA2061247 rs_200948870

6 SubmittersRCV002481548RCV000488504RCV002223216RCV004720262
NM_001204.7(BMPR2):c.968-1G>T SNV
Germline		 Chr2:202530793 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350341230 rs_1085307282

2 SubmittersRCV000488835RCV001003702
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 hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350341421 rs_1085307290

3 SubmittersRCV000488554RCV001003706RCV001360167
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) SNV
Germline		 Chr2:202530952 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341605 rs_1085307301

3 SubmittersRCV000488734RCV001823915RCV004720264
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
Primary pulmonary hypertension		 Reviewed By Expert Panel
 CA350341737 rs_1085307306

3 SubmittersRCV000488820RCV004777686RCV005090989
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 hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350341890 rs_1085307315

2 SubmittersRCV000488502RCV001003712
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.1258T>C (p.Cys420Arg) SNV
Germline		 Chr2:202532714 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341977 rs_1085307324

2 SubmittersRCV000488702RCV005051784
NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr) SNV
Germline		 Chr2:202532715 Likely pathogenic Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350341979 rs_1085307325

3 SubmittersRCV000488809RCV001376627RCV005411450
NM_001204.7(BMPR2):c.1276+1G>A SNV
Germline		 Chr2:202532733 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension associated with congenital heart disease
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2061325 rs_767070218

3 SubmittersRCV000488690RCV000664166RCV005090990
NM_001204.7(BMPR2):c.1276+3A>G SNV
Germline		 Chr2:202532735 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Reviewed By Expert Panel
 CA645293833 rs_1085307329

3 SubmittersRCV000488854RCV005411451RCV005090991
NM_001204.7(BMPR2):c.1276+3A>T SNV
Germline		 Chr2:202532735 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA645293834 rs_1085307329

2 SubmittersRCV000488558RCV005411452
NM_001204.7(BMPR2):c.1276+4A>G SNV
Germline		 Chr2:202532736 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA645293835 rs_1085307330

2 SubmittersRCV000488749RCV005411453
NM_001204.7(BMPR2):c.1277-9A>G SNV
Germline		 Chr2:202542302 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA645293838 rs_1085307331

3 SubmittersRCV000488730RCV005431700RCV005411455
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
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350344485 rs_1085307355

4 SubmittersRCV000488542RCV001865505RCV001823918RCV003231623
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 hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary venoocclusive disease 1		 Criteria Provided
Single Submitter
 CA350346158 rs_765887545

3 SubmittersRCV000488855RCV001003728RCV003147483
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.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
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided
ACVRL1-related disorder
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384897887 rs_1085307405

8 SubmittersRCV000488479RCV002420248RCV001050243RCV002244957RCV004551616RCV004584390
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
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384900434 rs_1085307409

5 SubmittersRCV000488783RCV004017643RCV003509546RCV002431425
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) SNV
Germline		 Chr12:51916042 Pathogenic/Likely pathogenic not specified
Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384901981 rs_1085307415

4 SubmittersRCV000507211RCV000525054RCV000488852RCV002404279
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) SNV
Germline		 Chr12:51916111 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 CA384902433 rs_1085307416

3 SubmittersRCV000792743RCV000488853
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
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Conflicting Classifications
 CA384904129 rs_1085307421

3 SubmittersRCV000488495RCV001755727RCV000814063
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) SNV
Germline		 Chr12:51920766 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
 CA384905272 rs_1085307422

4 SubmittersRCV000488647RCV002527017RCV000756968RCV002395184
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) SNV
Germline		 Chr12:51920831 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA384905800 rs_121909288

2 SubmittersRCV000488804RCV001003755
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
Hereditary factor VIII deficiency disease
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Condition: not provided		 Reviewed By Expert Panel
 CA384906013 rs_1085307429

8 SubmittersRCV000488710RCV001262033RCV004813103RCV002395186RCV005250061RCV003480652
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) SNV
Germline		 Chr11:17427095 Conflicting classifications of pathogenicity not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Pulmonary arterial hypertension
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3		 Criteria Provided
Conflicting Classifications
 CA5903282 rs_138687850

9 SubmittersRCV000501008RCV000763719RCV002056831RCV001102697RCV001102698RCV001102699RCV001278414RCV005356014RCV005044752
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
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Carcinoma of colon
not specified		 Criteria Provided
Conflicting Classifications
 CA5585590 rs_747728399

9 SubmittersRCV000564877RCV000635447RCV000985361RCV001823925RCV001356552RCV004596277
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 Pathogenic/Likely pathogenic Condition: not provided
Pulmonary arterial hypertension associated with congenital heart disease
TBX4-related disorder
Pulmonary hypertension, primary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400473105 rs_1555883342

4 SubmittersRCV000660521RCV000664178RCV004547833RCV001829824
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 hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350338496 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
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061523 rs_773135384

3 SubmittersRCV000664170RCV003596487RCV002507147
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) SNV
Germline		 Chr13:36853523 Conflicting classifications of pathogenicity Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary hypertension, primary, 2		 Criteria Provided
Conflicting Classifications
 CA6950368 rs_142213379

4 SubmittersRCV000664175RCV001313641
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
 CA387852975 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
 CA400470973 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
 CA400473885 rs_1555883469

2 SubmittersRCV000664181RCV003718276
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) SNV
Germline		 Chr11:17406748 Conflicting classifications of pathogenicity Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
not specified
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA5902886 rs_139524121

8 SubmittersRCV000710379RCV000988490RCV001104124RCV001104429RCV003226376RCV005357959
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
 CA384901730 rs_1592224412

3 SubmittersRCV000812604RCV001003754RCV002381809
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) SNV
Germline		 Chr2:202467522 Pathogenic Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA350399510 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
 CA350399598 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
 CA350399721 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
 CA350399729 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
 CA350338120 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
 CA350340524 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
 CA350340640 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
 CA350340647 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
 CA350340815 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
 CA350341904 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
 CA350341934 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
 CA350344441 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
 CA64043117 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
 CA350347093 rs_1574506790

1 SubmittersRCV001003733
NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) SNV
Germline		 Chr2:202555823 Pathogenic Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350347639 rs_1574506914

2 SubmittersRCV001003735RCV002549222
NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) SNV
Unknown		 Chr2:202556165 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA350348705 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
 CA350348796 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
 CA350348813 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
 CA346262229 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
 CA374973397 rs_374644720

1 SubmittersRCV001003748
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) SNV
Germline		 Chr12:51913579 Pathogenic Pulmonary arterial hypertension
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384898349 rs_1592222308

3 SubmittersRCV001003751RCV005093036RCV002320218
NM_000020.3(ACVRL1):c.647T>G (p.Val216Gly) SNV
Unknown		 Chr12:51914460 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA384899992 rs_1592223392

1 SubmittersRCV001003752
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) SNV
Germline		 Chr12:51920832 Pathogenic/Likely pathogenic Pulmonary arterial hypertension
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384905817 rs_863223408

3 SubmittersRCV001003758RCV004792607RCV001060097
NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter) SNV
Unknown		 Chr17:61456611 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA400468997 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
 CA350396807 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
 CA350396819 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
 CA350399890 rs_1085307226

1 SubmittersRCV001003671
NM_001204.7(BMPR2):c.621+1G>A SNV
Unknown		 Chr2:202514980 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA350339197 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
 CA350339199 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
 CA350340052 rs_1574488277

1 SubmittersRCV001003682
NM_001204.7(BMPR2):c.1128+2T>G SNV
Unknown		 Chr2:202530956 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA350341616 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
 CA350342709 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
 CA3014860 rs_150974461

6 SubmittersRCV001155861RCV001220771RCV001334871RCV001683739RCV001776122RCV004754696
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter) SNV
Germline		 Chr3:194406005 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, autosomal recessive
Pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA90647035 rs_200914446

3 SubmittersRCV002246430RCV001807428RCV002569007
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
 CA355801332 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
 CA355802501 rs_2108829926

3 SubmittersRCV001807426RCV002246428
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) SNV
Germline		 Chr11:17470200 Conflicting classifications of pathogenicity Condition: not provided
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA5903909 rs_766068851

6 SubmittersRCV001817803RCV005040401RCV005361746
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) SNV
Germline		 Chr11:17470175 Conflicting classifications of pathogenicity Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA379784330 rs_2133711315

5 SubmittersRCV003464153RCV002503329RCV005361747RCV001817966
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
 CA350337794 rs_2106002050

2 SubmittersRCV001823971RCV002542751
NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter) SNV
Germline		 Chr2:202552826 Pathogenic Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350344807 rs_2106042229

3 SubmittersRCV001824005RCV004720948
NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser) SNV
Germline		 Chr2:202555805 Conflicting classifications of pathogenicity Pulmonary arterial hypertension associated with another disease
Pulmonary arterial hypertension associated with HIV infection
Pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA2061495 rs_149067277

3 SubmittersRCV001824012RCV002074382RCV005361748
NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter) SNV
Unknown		 Chr2:202514975 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA350339167 rs_2106003241

1 SubmittersRCV001842230
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) SNV
Germline		 Chr4:95131328 Conflicting classifications of pathogenicity Acromesomelic dysplasia 3
Type A2 brachydactyly
Inborn genetic diseases
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA3015124 rs_373000965

3 SubmittersRCV001878395RCV002548690RCV005361769
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter) SNV
Unknown		 Chr8:54459064 Pathogenic Pulmonary arterial hypertension Criteria Provided
Single Submitter
 CA371024178 rs_2129277991

1 SubmittersRCV002077365
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) SNV
Germline		 Chr19:15179114 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Pulmonary arterial hypertension
NOTCH3-related disorder		 Criteria Provided
Conflicting Classifications
 CA9263033 rs_35031555

6 SubmittersRCV002170008RCV002551337RCV002285182RCV004538782
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) SNV
Germline		 Chr9:136511260 Conflicting classifications of pathogenicity Condition: not provided
Pulmonary arterial hypertension
Adams-Oliver syndrome 5		 Criteria Provided
Conflicting Classifications
 CA5341294 rs_760376139

3 SubmittersRCV002244509RCV002285185RCV003101320
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) SNV
Germline		 Chr11:17460553 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Familial hyperinsulinism
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA379776569 rs_1201126343

5 SubmittersRCV002251095RCV002496184RCV003403755RCV005356069
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter) SNV
Germline		 Chr15:39943426 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA391691010 rs_2504524056

1 SubmittersRCV002285235
NM_001204.7(BMPR2):c.2530C>T (p.Gln844Ter) SNV
Germline		 Chr2:202556195 Pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA350348766 rs_1375906152

1 SubmittersRCV002285242
NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter) SNV
Unknown		 Chr2:202556001 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA350348225 rs_2468743454

1 SubmittersRCV002306252
NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln) SNV
Germline		 Chr11:17460645 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA5903740 rs_199616008

4 SubmittersRCV002978181RCV003111734RCV005363058
NM_001204.7(BMPR2):c.1259G>T (p.Cys420Phe) SNV
Germline		 Chr2:202532715 Likely pathogenic Pulmonary arterial hypertension Reviewed By Expert Panel

1 SubmittersRCV005412172