Total 58 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 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.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.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.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_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

8 SubmittersRCV000208112RCV000489453RCV001003673RCV001376625RCV001823881RCV002500667
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.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_001204.7(BMPR2):c.88C>T (p.Gln30Ter) SNV
Germline		 Chr2:202464820 Pathogenic Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1		 Criteria Provided
Single Submitter
 CA350398991 rs_1085307161

2 SubmittersRCV000488840RCV006605272
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.1241G>A (p.Trp414Ter) SNV
Germline		 Chr2:202532697 Pathogenic/Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350341931 rs_1085307317

3 SubmittersRCV000488770RCV002506184RCV006463040
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.1687G>A (p.Val563Met) SNV
Germline		 Chr2:202555352 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061426 rs_557172581

3 SubmittersRCV000488683RCV005090994RCV005027565
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.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_001204.7(BMPR2):c.1677T>A (p.Thr559=) SNV
Germline		 Chr2:202555342 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Inborn genetic diseases
Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1		 Criteria Provided
Conflicting Classifications
 CA2061424 rs_748684688

3 SubmittersRCV001142361RCV002402512RCV005029712
NM_001204.7(BMPR2):c.2960C>T (p.Ser987Phe) SNV
Germline		 Chr2:202559789 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061619 rs_150642992

3 SubmittersRCV001139836RCV002556974RCV005021478
NM_001204.7(BMPR2):c.530-2A>G SNV
Unknown		 Chr2:202514886 Pathogenic Pulmonary venoocclusive disease 1 No Assertion Criteria Provided
 CA350338620 rs_2106003122

1 SubmittersRCV001795820
NM_001204.7(BMPR2):c.182C>T (p.Ser61Leu) SNV
Germline		 Chr2:202464914 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Inborn genetic diseases
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA350399344 rs_1166280962

3 SubmittersRCV003050521RCV005301229RCV005028142
NM_001204.7(BMPR2):c.1862C>T (p.Thr621Met) SNV
Germline		 Chr2:202555527 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061461 rs_147943794

2 SubmittersRCV003078969RCV005028191
NM_001204.7(BMPR2):c.80C>T (p.Ser27Leu) SNV
Germline		 Chr2:202464812 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Inborn genetic diseases
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061031 rs_573463511

3 SubmittersRCV003072388RCV005310898RCV005028197
NM_001204.7(BMPR2):c.2678G>A (p.Arg893Gln) SNV
Germline		 Chr2:202556343 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1		 Criteria Provided
Conflicting Classifications
 CA2061567 rs_751749720

2 SubmittersRCV002597351RCV005019258
NM_001204.7(BMPR2):c.1742A>G (p.Glu581Gly) SNV
Germline		 Chr2:202555407 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary, 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2061439 rs_763249213

4 SubmittersRCV002746368RCV005027937RCV005522725RCV005642849
NM_001204.7(BMPR2):c.2659C>T (p.Leu887Phe) SNV
Germline		 Chr2:202556324 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA350349257 rs_776284920

3 SubmittersRCV002982976RCV005019539RCV005308881
NM_001204.7(BMPR2):c.2362G>A (p.Val788Ile) SNV
Germline		 Chr2:202556027 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061524 rs_146310981

3 SubmittersRCV003320419RCV003596243RCV005029979
NM_001204.7(BMPR2):c.776G>A (p.Arg259His) SNV
Germline		 Chr2:202518976 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA2061203 rs_200960921

2 SubmittersRCV003596712RCV005030090
NM_001204.7(BMPR2):c.530-13C>A SNV
Germline		 Chr2:202514875 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA538970648 rs_1224397184

2 SubmittersRCV003596827RCV005030105
NM_001204.7(BMPR2):c.914C>T (p.Ala305Val) SNV
Germline		 Chr2:202520148 Conflicting classifications of pathogenicity Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2061248 rs_199954814

3 SubmittersRCV003596821RCV005030104RCV005311005
NM_001204.7(BMPR2):c.1837A>G (p.Thr613Ala) SNV
Germline		 Chr2:202555502 Conflicting classifications of pathogenicity Inborn genetic diseases
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications
 CA64043214 rs_141038240

3 SubmittersRCV004963711RCV003596751RCV005030096
NM_001204.7(BMPR2):c.1751G>T (p.Arg584Leu) SNV
Germline		 Chr2:202555416 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications
 CA2061444 rs_139591065

2 SubmittersRCV005030133RCV003597056
NM_001204.7(BMPR2):c.1655T>C (p.Ile552Thr) SNV
Germline		 Chr2:202555320 Conflicting classifications of pathogenicity Inborn genetic diseases
Primary pulmonary hypertension
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV004970086RCV006484263RCV005023757
NM_001204.7(BMPR2):c.1285G>A (p.Val429Ile) SNV
Germline		 Chr2:202542319 Conflicting classifications of pathogenicity Inborn genetic diseases
Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV004969999RCV005023751RCV005110044
NM_001204.7(BMPR2):c.1089G>T (p.Leu363=) SNV
Germline		 Chr2:202530915 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005030795RCV005784473
NM_001204.7(BMPR2):c.1215C>T (p.Asp405=) SNV
Germline		 Chr2:202532671 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005030797RCV005303465
NM_001204.7(BMPR2):c.1459G>C (p.Asp487His) SNV
Germline		 Chr2:202552761 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005030801
NM_001204.7(BMPR2):c.1559C>T (p.Pro520Leu) SNV
Germline		 Chr2:202552861 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV005030804RCV005112745RCV005303466
NM_001204.7(BMPR2):c.1595C>G (p.Ser532Ter) SNV
Germline		 Chr2:202555260 Likely pathogenic Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005030805
NM_001204.7(BMPR2):c.1600A>G (p.Asn534Asp) SNV
Germline		 Chr2:202555265 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Condition: not provided
Inborn genetic diseases
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV005030806RCV006445020RCV005303467RCV006564252
NM_001204.7(BMPR2):c.1749C>A (p.Asn583Lys) SNV
Germline		 Chr2:202555414 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005030811RCV005112746
NM_001204.7(BMPR2):c.2418G>A (p.Met806Ile) SNV
Germline		 Chr2:202556083 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Primary pulmonary hypertension		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018429RCV005112747
NM_001204.7(BMPR2):c.2922T>G (p.Arg974=) SNV
Germline		 Chr2:202559751 Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
Pulmonary venoocclusive disease 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018436RCV005522984