Total 271 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_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) SNV
Germline		 Chr17:17215228 Pathogenic Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
FLCN-related disorder
Birt-Hogg-Dube syndrome 1
Pulmonary arterial hypertension
Pneumothorax - familial		 Criteria Provided
Multiple Submitters
No Conflicts
 CA196224 rs_137852929

17 SubmittersRCV000003534RCV000166580RCV000255586RCV000781382RCV003914800RCV004786235RCV005862695RCV005865156
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
not specified
Pulmonary arterial hypertension
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119404 rs_121909288

10 SubmittersRCV000008739RCV000008740RCV000507762RCV001003756RCV001564363RCV002390099
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

4 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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Condition: not provided
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278069 rs_137852741

8 SubmittersRCV000009341RCV000763065RCV001823864RCV001810839RCV001003746RCV001376577
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) SNV
Germline		 Chr2:202464950 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Condition: not provided		 Reviewed By Expert Panel
 CA278072 rs_137852742

4 SubmittersRCV000009342RCV001003653RCV006270335
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
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
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA278077 rs_137852744

5 SubmittersRCV000009345RCV001823866RCV005025043RCV004547472
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
Pulmonary arterial hypertension
Idiopathic and/or familial 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
Pulmonary arterial hypertension
Idiopathic and/or familial 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
Pulmonary arterial hypertension
Idiopathic and/or familial 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
Pulmonary arterial hypertension
Idiopathic and/or familial 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 Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278095 rs_137852751

6 SubmittersRCV000009355RCV000498671RCV001003704RCV001376626
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) SNV
Germline		 Chr2:202518831 Pathogenic Pulmonary hypertension, primary, dexfenfluramine-associated
Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119933 rs_137852753

9 SubmittersRCV000009358RCV000009357RCV000197776RCV001003683RCV001823871RCV002228023RCV002476949
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) SNV
Germline		 Chr10:86921568 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile polyposis syndrome
Polyposis syndrome, hereditary mixed, 2
not specified
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA164567 rs_587781522

13 SubmittersRCV000129512RCV000590666RCV002228646RCV003474750RCV005229959RCV005359206
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
not specified
Pulmonary arterial hypertension
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
SMAD4-related disorder
Familial pancreatic carcinoma
Juvenile polyposis syndrome
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		 Criteria Provided
Conflicting Classifications
 CA186263 rs_372316981

16 SubmittersRCV000162438RCV000196213RCV000589285RCV000764159RCV001123230RCV001123231RCV001328507RCV002468936RCV002285148RCV002310723RCV003398830RCV005394569
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
Condition: not provided
Pulmonary arterial hypertension
KCNA5-related disorder		 Criteria Provided
Conflicting Classifications
 CA199821 rs_17215409

10 SubmittersRCV000171656RCV000549885RCV001699140RCV001589050RCV002285149RCV003907539
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) SNV
Germline		 Chr11:17443261 Conflicting classifications of pathogenicity not specified
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Condition: not provided
Inborn genetic diseases
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
ABCC8-related disorder
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA207378 rs_117874766

11 SubmittersRCV000193705RCV000303097RCV000396751RCV000360233RCV001279195RCV001336811RCV001546216RCV002514096RCV004558438RCV004734847RCV005365113
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) SNV
Germline		 Chr11:17448596 Conflicting classifications of pathogenicity not specified
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Hypoglycemia
ABCC8-related disorder
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA205176 rs_67254669

17 SubmittersRCV000192390RCV000666629RCV000710372RCV000763720RCV001102903RCV001102904RCV001272242RCV001336810RCV001449652RCV003491936RCV004530090RCV005042408RCV005361103
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) SNV
Germline		 Chr2:202467566 Conflicting classifications of pathogenicity Condition: not provided
Pulmonary hypertension, primary, 1
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324555 rs_863223419

3 SubmittersRCV000200009RCV001823875RCV006462063
NM_001204.7(BMPR2):c.853-2A>G SNV
Germline		 Chr2:202520085 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324144 rs_863223424

6 SubmittersRCV000199603RCV000242870RCV001003696RCV001823878RCV006462064
NM_001204.7(BMPR2):c.1128+1G>A SNV
Germline		 Chr2:202530955 Pathogenic Condition: not provided
Pulmonary hypertension, primary, 1
Idiopathic and/or familial pulmonary arterial hypertension
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
not specified
Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323134 rs_863223408

10 SubmittersRCV000198604RCV000414952RCV000506673RCV000502469RCV000488871RCV001003757RCV002390510
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
Condition: not provided
Pulmonary arterial hypertension
Primary pulmonary hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351778 rs_869025366

8 SubmittersRCV000208112RCV000489453RCV001003673RCV001376625RCV001823881RCV002500667
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

11 SubmittersRCV000519623RCV000555279RCV001535730RCV002285156RCV002272196RCV002311210
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) SNV
Germline		 Chr2:202377490 Pathogenic Pulmonary hypertension, primary, 1
Idiopathic and/or familial pulmonary arterial hypertension
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
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
 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 Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Pulmonary arterial hypertension associated with congenital heart disease
Condition: not provided
Juvenile polyposis syndrome
not specified
Polyposis syndrome, hereditary mixed, 2		 Criteria Provided
Conflicting Classifications
 CA5585743 rs_376651641

11 SubmittersRCV000561192RCV000462223RCV000664164RCV000486559RCV001358800RCV001526929RCV003475928
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
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16610567 rs_1060502576

4 SubmittersRCV000468461RCV000763064RCV001003720RCV002230088
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) SNV
Germline		 Chr2:202520195 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Condition: not provided
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16610660 rs_1060502581

6 SubmittersRCV000461193RCV001003700RCV001810954RCV001376634RCV005027523
NM_001204.7(BMPR2):c.968-5A>G SNV
Germline		 Chr2:202530789 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Condition: not provided
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA16610662 rs_1060502584

5 SubmittersRCV000459115RCV001331819RCV002221541RCV002230090RCV004551530
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
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614168 rs_1060503248

11 SubmittersRCV000467491RCV000488746RCV001576840RCV002436455
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg) SNV
Germline		 Chr10:86921567 Conflicting classifications of pathogenicity Condition: not provided
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
not specified
Polyposis syndrome, hereditary mixed, 2
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA16619009 rs_1064795593

8 SubmittersRCV000483970RCV000692348RCV001010325RCV003321632RCV004568194RCV005355957
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350396817 rs_1085307156

3 SubmittersRCV000488560RCV001823908RCV006463032
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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350399384 rs_1085307177

5 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 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 hypertension, primary, 1
Pulmonary arterial hypertension		 No Assertion Criteria Provided
 CA350399577 rs_1085307203

2 SubmittersRCV000488733RCV001003658
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Primary pulmonary hypertension		 Criteria Provided
Single Submitter
 CA350340688 rs_576091247

3 SubmittersRCV000488830RCV001003698RCV006463038
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) SNV
Germline		 Chr2:202520142 Likely pathogenic Pulmonary hypertension, primary, 1
Condition: not provided
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA2061247 rs_200948870

6 SubmittersRCV000488504RCV002223216RCV002481548RCV004720262
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 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
Idiopathic and/or familial pulmonary arterial hypertension
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 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
Primary pulmonary hypertension		 Reviewed By Expert Panel
 CA350341903 rs_1085307316

3 SubmittersRCV000488583RCV004822074RCV006463039
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
Primary pulmonary hypertension
Pulmonary arterial hypertension		 Reviewed By Expert Panel
 CA645293833 rs_1085307329

3 SubmittersRCV000488854RCV005090991RCV005411451
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Primary pulmonary hypertension
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350344485 rs_1085307355

4 SubmittersRCV000488542RCV001823918RCV001865505RCV003231623
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) SNV
Germline		 Chr2:202552762 Pathogenic Pulmonary hypertension, primary, 1
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Single Submitter
 CA350344615 rs_1085307360

3 SubmittersRCV000488476RCV001823920RCV006270385
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
Idiopathic and/or familial pulmonary arterial hypertension
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
Idiopathic and/or familial pulmonary arterial hypertension
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
ACVRL1-related disorder
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384897887 rs_1085307405

8 SubmittersRCV000488479RCV001050243RCV002244957RCV002420248RCV004551616RCV004584390
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

5 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 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
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 Condition: not provided
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384905272 rs_1085307422

4 SubmittersRCV000756968RCV000488647RCV002395184RCV002527017
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
Hereditary hemorrhagic telangiectasia		 Reviewed By Expert Panel
 CA384906013 rs_1085307429

8 SubmittersRCV000488710RCV001262033RCV002395186RCV003480652RCV004813103RCV005250061
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) SNV
Germline		 Chr11:17427095 Conflicting classifications of pathogenicity not specified
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Condition: not provided
Pulmonary arterial hypertension
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2		 Criteria Provided
Conflicting Classifications
 CA5903282 rs_138687850

9 SubmittersRCV000501008RCV000763719RCV001102697RCV001102698RCV001102699RCV001278414RCV002056831RCV005356014RCV005044752
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 Pathogenic/Likely pathogenic Condition: not provided
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary hypertension, primary, 1
TBX4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400473105 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
Idiopathic and/or familial pulmonary arterial hypertension
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
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications
 CA2061523 rs_773135384

3 SubmittersRCV000664170RCV002507147RCV003596487
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.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
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384898349 rs_1592222308

3 SubmittersRCV001003751RCV002320218RCV005093036
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
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384905817 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
 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 arterial hypertension
Pulmonary hypertension, primary, 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA90647035 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, 5		 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, 5		 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, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA5903909 rs_766068851

7 SubmittersRCV001817803RCV005040401RCV005863490RCV005361746
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) SNV
Germline		 Chr11:17470175 Conflicting classifications of pathogenicity Condition: not provided
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
Pulmonary arterial hypertension		 Criteria Provided
Conflicting Classifications
 CA379784330 rs_2133711315

6 SubmittersRCV001817966RCV002503329RCV003464153RCV005361747
NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp) SNV
Germline		 Chr2:202467568 Conflicting classifications of pathogenicity Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Inborn genetic diseases
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications
 CA350399620 rs_2105962254

3 SubmittersRCV001823969RCV006327300RCV006468064
NM_001204.7(BMPR2):c.419-1G>T SNV
Germline		 Chr2:202513718 Likely pathogenic Pulmonary arterial hypertension
Drug- or toxin-induced pulmonary arterial hypertension
Pulmonary arterial hypertension associated with another disease
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 Pulmonary arterial hypertension
Idiopathic and/or familial 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
Pulmonary arterial hypertension associated with another disease
Pulmonary arterial hypertension associated with HIV infection
Primary pulmonary hypertension
Pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2061495 rs_149067277

4 SubmittersRCV001824012RCV002074382RCV005361748RCV006451042
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 Type A2 brachydactyly
Acromesomelic dysplasia 3
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
Pulmonary arterial hypertension
Inborn genetic diseases
NOTCH3-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA9263033 rs_35031555

8 SubmittersRCV002170008RCV002285182RCV002551337RCV004538782RCV006437120
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, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Leucine-induced hypoglycemia
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