Total 23 pathogenic variants reported for Pulmonary venoocclusive disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) SNV
Germline		 Chr2:202556360 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278069 rs_137852741

7 SubmittersRCV000009341RCV001003746RCV000763065RCV001376577RCV001823864RCV001810839
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) SNV
Germline		 Chr2:202552774 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary arterial hypertension
Pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension
Pulmonary venoocclusive disease 1
Condition: not provided
Primary pulmonary hypertension		 Reviewed By Expert Panel
 CA278089 rs_137852749

10 SubmittersRCV000009351RCV001003726RCV001823869RCV003313915RCV001810840RCV001851761
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
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119933 rs_137852753

8 SubmittersRCV000009357RCV000009358RCV000197776RCV001003683RCV001823871RCV002228023RCV002476949
NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter) SNV
Germline		 Chr2:202464852 Pathogenic Pulmonary venoocclusive disease 1 No Assertion Criteria Provided
 CA119938 rs_137852755

1 SubmittersRCV003984801
NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr) SNV
Germline		 Chr2:202514962 Conflicting classifications of pathogenicity Familial pulmonary capillary hemangiomatosis
Pulmonary venoocclusive disease 1		 No Assertion Criteria Provided
 CA130275 rs_397514496

2 SubmittersRCV003227622RCV003984810
NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter) SNV
Germline		 Chr2:202514941 Pathogenic Pulmonary venoocclusive disease 1 No Assertion Criteria Provided
 CA130278 rs_397514497

1 SubmittersRCV003984811
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

7 SubmittersRCV000208112RCV000489453RCV001003673RCV001376625RCV001823881RCV002500667
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) SNV
Germline		 Chr2:202467547 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Condition: not provided
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061080 rs_140683387

5 SubmittersRCV000488455RCV001753635RCV002517440RCV002494550
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 venoocclusive disease 1
Pulmonary hypertension, primary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602824 rs_886041324

5 SubmittersRCV000385546RCV000488654RCV001003684RCV001823883RCV003389326
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.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_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) SNV
Germline		 Chr2:202532697 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Single Submitter
 CA350341931 rs_1085307317

2 SubmittersRCV000488770RCV002506184
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.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
 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
 rs_773135384

3 SubmittersRCV000664170RCV002507147RCV003596487
NM_001204.7(BMPR2):c.530-2A>G SNV
Unknown		 Chr2:202514886 Pathogenic Pulmonary venoocclusive disease 1 No Assertion Criteria Provided
 rs_2106003122

1 SubmittersRCV001795820
NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser) SNV
Germline		 Chr2:202556191 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 rs_368819325

2 SubmittersRCV001893536RCV002482759