| | | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935430, BMPR2 +12 more | Deletion | Pulmonary hypertension, primary, 1 | |
| | BMPR2, LOC129935429 +6 more | Deletion | Pulmonary arterial hypertension | |
| | BMPR2, LOC129935429 +6 more | Deletion (genic upstream transcript variant) | Pulmonary arterial hypertension | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided +1 more | |
| | | Microsatellite (5 prime UTR variant) | BMPR2-related condition | |
| | | Microsatellite (5 prime UTR variant) | BMPR2-related condition | |
| | | Microsatellite (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Indel (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Microsatellite (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Indel (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary pulmonary hypertension +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | BMPR2, LOC129935435 +1 more | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 +4 more | |
| | | Duplication (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Pulmonary hypertension, primary, 1 | |
| | | Deletion | Idiopathic and/or familial pulmonary arterial hypertension | |
| | BMPR2, LOC129935435 +1 more | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Duplication (frameshift variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (nonsense) | Pulmonary hypertension, primary, 1 | |
| | | Deletion (frameshift variant) | Pulmonary arterial hypertension | |
| | | Deletion (frameshift variant) | Pulmonary hypertension, primary, 1 | |
| | | Indel (frameshift variant) | Pulmonary hypertension, primary, 1 | |
| | | Deletion (frameshift variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (nonsense) | Pulmonary hypertension, primary, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (missense variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (synonymous variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (nonsense) | Primary pulmonary hypertension +1 more | |
| | | Single nucleotide variant (nonsense) | Pulmonary hypertension, primary, 1 | |
| | | Deletion (frameshift variant) | Pulmonary venoocclusive disease 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (nonsense) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (nonsense) | Primary pulmonary hypertension +2 more | |
| | | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (missense variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary arterial hypertension | |
| | BMPR2, LOC129935435 +1 more | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (splice donor variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (intron variant) | Pulmonary hypertension, primary, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Primary pulmonary hypertension | |
| | | Single nucleotide variant (intron variant) | Primary pulmonary hypertension | |
| | | Copy number loss | See cases | |
| | BMPR2, LOC129935436 +1 more | Copy number loss | See cases | |
| | | Deletion (splice acceptor variant +1 more) | Pulmonary arterial hypertension | |
| | | Deletion (splice acceptor variant +1 more) | Pulmonary arterial hypertension | |
| | | Deletion (splice acceptor variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (intron variant) | Primary pulmonary hypertension | |
| | | Indel (splice acceptor variant) | Primary pulmonary hypertension | |