BMPR2 — 1980 ClinVar variants

All ClinVar germline BMPR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 854 flagged for review →

408 Pathogenic · 11 Pathogenic/Likely pathogenic · 71 Likely pathogenic · 70 Conflicting · 83 Benign · 19 Benign/Likely benign · 434 Likely benign · 884 Uncertain significance

Full BMPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 854

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

BMPR2 p.Arg303His Likely pathogenic Expert panel
pulmonary arterial hypertension
BMPR2 p.Val125Ala Likely pathogenic Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Ala24Glu Pathogenic No assertion criteria
pulmonary hypertension, primary, 1
BMPR2 p.Arg10Trp Pathogenic No assertion criteria
pulmonary hypertension, primary, 1
BMPR2 p.Arg899Pro Pathogenic No assertion criteria
pulmonary hypertension, primary, 1
BMPR2 p.Lys982Arg Pathogenic No assertion criteria
pulmonary hypertension, primary, 1
BMPR2 p.Met186Val Pathogenic No assertion criteria
Pulmonary arterial hypertension associated with congenital heart disease
BMPR2 p.Thr102Ala Pathogenic No assertion criteria
Pulmonary arterial hypertension associated with congenital heart disease

Predictors agree, ClinVar conflicts 41

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

BMPR2 p.Ala714Ser Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg147Gln Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Arg259His Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg857Gln Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Arg893Gln Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Asn534Asp Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Cys483Arg Conflicting Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Cys99Arg Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Cys99Trp Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Gln721Arg Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Gln844Glu Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Glu581Gly Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Gly811Asp Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Gly882Asp Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Ile552Thr Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Ile579Val Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Ile77Thr Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Leu608Val Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Leu751Val Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Leu895Ile Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Met434Ile Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Met505Thr Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Met572Ile Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Pro366Ala Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Pro39Leu Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Pro520Leu Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Ser27Leu Conflicting Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Ser61Leu Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Ser911Ala Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Thr1024Ala Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Thr1026Ala Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Thr23Ile Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Thr346Ser Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Thr575Ile Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Thr613Ala Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Thr621Lys Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Thr643Ala Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Val1009Ile Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Val262Ala Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Val451Ala Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Val788Ile Conflicting Single submitter
Primary pulmonary hypertension

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

BMPR2 p.Met1Val Conflicting Single submitter

Predictors lean, ClinVar uncertain 530

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 530

BMPR2 p.Ala494Val Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Arg266Thr Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Arg419Ser Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Arg536His Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Arg842Ser Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Asn393Ser Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Glu376Lys Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Gly311Glu Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Gly378Val Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Gly47Asp Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Leu363Val Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Leu401Ser Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Met506Val Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Thr628Ala Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Tyr407Ser Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Val392Ala Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Ala328Val Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ala796Thr Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Arg114His Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Arg529His Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Arg770Trp Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Asn588Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Asn639Asp Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Asp722Asn Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Gln486Arg Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Gln834Arg Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Gln936Arg Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Glu31Lys Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Glu994Asp Uncertain significance Multiple submitters
BMPR2-related disorder
BMPR2 p.Gly177Arg Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Gly811Ser Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Gly882Val Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.His324Arg Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.His814Arg Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.His819Tyr Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ile246Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Ile46Val Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ile562Val Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ile58Val Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Leu733Phe Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Lys512Arg Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Lys678Arg Uncertain significance Multiple submitters
pulmonary venoocclusive disease 1
BMPR2 p.Met1035Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Met273Val Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Met572Leu Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Phe417Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Pro142Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Pro142Ser Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Pro250Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Ser454Phe Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Ser689Cys Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ser922Thr Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Ser952Gly Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Thr268Ser Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Thr309Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Thr523Ala Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Thr603Ala Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Thr606Ser Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Thr756Ala Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Thr993Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Tyr743Cys Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Val1000Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Val888Ala Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ala1008Glu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala1008Thr Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Ala156Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala167Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala167Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala192Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala193Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala193Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala216Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala235Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala24Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala25Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala305Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala372Thr Uncertain significance Single submitter
Primary pulmonary hypertension
BMPR2 p.Ala408Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala465Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala465Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala472Thr Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Ala490Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala502Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala502Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala596Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala714Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala714Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala717Glu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala717Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala727Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala731Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala789Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala789Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala797Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala797Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala797Val Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Ala821Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala826Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala877Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala917Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala917Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala924Glu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala925Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala935Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala935Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala945Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg1007Met Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg114Cys Uncertain significance Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg147Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg213Gln Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg266Ser Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Arg310Ile Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg357Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg381Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg455Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg459Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg459Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg535Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg584Gln Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg770Gln Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg842Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg857Leu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg886Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg890Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg891Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg893Leu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg893Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg933Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg983Trp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg985Cys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg985His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn1001Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn1003Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn1006Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn110Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn202Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn239Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn343Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn442Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn530Ile Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn644Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn666Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn684Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn728Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn761Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn761His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn764Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn78Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn792Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn795Ser Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 274

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 274

BMPR2 p.Arg886Cys Likely benign Expert panel
pulmonary arterial hypertension
BMPR2 p.Gln42Arg Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Glu503Asp Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Gly182Asp Uncertain significance Expert panel
pulmonary arterial hypertension
BMPR2 p.Gly963Cys Likely benign Expert panel
pulmonary arterial hypertension
BMPR2 p.Thr346Asn Likely benign Expert panel
pulmonary arterial hypertension
BMPR2 p.Val348Ile Likely benign Expert panel
pulmonary arterial hypertension
BMPR2 p.Ala35Val Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Arg225Cys Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Arg225His Benign/Likely benign Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Arg32Gln Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Arg857Trp Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Arg934Thr Likely benign Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Asp682Glu Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Glu661Gln Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Ile257Val Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Ile587Met Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Met273Arg Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Met626Ile Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Phe723Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Phe773Leu Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ser296Asn Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ser300Arg Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ser568Phe Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Ser995Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Thr1026Ile Uncertain significance Multiple submitters
pulmonary hypertension, primary, 1
BMPR2 p.Thr112Lys Uncertain significance Multiple submitters
Primary pulmonary hypertension
BMPR2 p.Thr65Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Thr993Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BMPR2 p.Ala269Val Uncertain significance Single submitter
BMPR2 p.Ala305Val Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Ala400Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala472Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala497Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala594Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ala714Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg10Gln Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg211Gln Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg237Cys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg259Cys Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Arg303Cys Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Arg32Trp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg365Cys Benign Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg365His Likely benign Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg419Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg510Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg584Leu Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Arg597Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg597Leu Likely benign Single submitter
Developmental disorder
BMPR2 p.Arg754Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg893Trp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Arg983Leu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn1002His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn1006His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn245Lys Uncertain significance Single submitter
Primary pulmonary hypertension
BMPR2 p.Asn335Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn527Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn527Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn530Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn583Lys Conflicting Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Asn583Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn585Ile Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn588Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn588Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn792Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn817Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn827Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn859Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asn861Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asp223His Conflicting Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Asp255Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asp370Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asp422Glu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asp422Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asp674Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Asp682His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Cys1037Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Cys288Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gln433Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gln437His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gln486Glu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gln592Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gln593His Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu427Asp Likely benign Single submitter
Primary pulmonary hypertension
BMPR2 p.Glu427Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu431Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu439Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu489Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu528Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu590Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu602Ala Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu672Gln Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu679Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu683Gly Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu71Lys Uncertain significance Single submitter
Pulmonary arterial hypertension associated with congenital heart disease
BMPR2 p.Glu785Lys Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Glu866Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu892Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu994Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Glu999Lys Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly322Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly345Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly56Ala Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly63Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly63Asp Uncertain significance Single submitter
pulmonary arterial hypertension
BMPR2 p.Gly719Glu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly75Ala Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly774Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly808Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Gly968Arg Uncertain significance Single submitter
BMPR2-related disorder
BMPR2 p.Gly968Asp Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.His294Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.His306Tyr Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.His443Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.His688Arg Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.His688Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.His800Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile151Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile152Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile153Met Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile329Val Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Ile416Leu Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile416Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile480Thr Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile480Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile507Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile51Met Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Ile860Thr Uncertain significance Single submitter
pulmonary hypertension, primary, 1
BMPR2 p.Ile971Met Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu1019Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu14Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu155Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu200Ile Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu200Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu203Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu276Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu293Phe Uncertain significance Single submitter
Primary pulmonary hypertension
BMPR2 p.Leu577Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu608Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu668Val Likely benign Single submitter
Primary pulmonary hypertension
BMPR2 p.Leu733Met Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu745Phe Conflicting Single submitter
Primary pulmonary hypertension
BMPR2 p.Leu745Pro Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu760Met Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu781Ser Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu79Phe Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu79Val Uncertain significance Single submitter
Inborn genetic diseases
BMPR2 p.Leu887Phe Conflicting Single submitter
Inborn genetic diseases
BMPR2 p.Leu996Met Uncertain significance Single submitter
Primary pulmonary hypertension
BMPR2 p.Lys244Asn Uncertain significance Single submitter
Inborn genetic diseases

All BMPR2 variants

Pathogenic 408

Showing the top 300 by review status; the full set is in the sitemap.

c.1277-8A>G Expert panel pulmonary arterial hypertension
c.1277-9A>G Expert panel pulmonary arterial hypertension
c.1413+1G>A Expert panel pulmonary arterial hypertension
c.418+3A>T Expert panel pulmonary arterial hypertension
c.418+5G>A Expert panel pulmonary arterial hypertension
c.968-5A>G Expert panel pulmonary arterial hypertension
p.Ala391Thr Expert panel pulmonary arterial hypertension
p.Arg491Gln Expert panel pulmonary arterial hypertension
p.Cys118Trp Expert panel pulmonary arterial hypertension
p.Cys34Arg Expert panel pulmonary arterial hypertension
p.Cys420Arg Expert panel pulmonary arterial hypertension
p.Cys84Tyr Expert panel pulmonary arterial hypertension
p.Glu376Ter Expert panel pulmonary arterial hypertension
p.Ser301Pro Expert panel pulmonary arterial hypertension
p.Ser475Ter Expert panel pulmonary arterial hypertension
p.Ser73Ter Expert panel pulmonary arterial hypertension
c.1128+1G>A Multiple submitters Primary pulmonary hypertension
c.1128+1G>C Multiple submitters Primary pulmonary hypertension
c.853-2A>G Multiple submitters Primary pulmonary hypertension
p.Arg147Ter Multiple submitters Primary pulmonary hypertension
p.Arg211Ter Multiple submitters Primary pulmonary hypertension
p.Arg213Ter Multiple submitters Primary pulmonary hypertension
p.Arg321Ter Multiple submitters Primary pulmonary hypertension
p.Arg332Ter Multiple submitters Primary pulmonary hypertension
p.Arg491Trp Multiple submitters Primary pulmonary hypertension
p.Arg597Ter Multiple submitters pulmonary hypertension, primary, 1
p.Arg899Ter Multiple submitters Primary pulmonary hypertension
p.Asn861fs Multiple submitters Primary pulmonary hypertension
p.Cys117Tyr Multiple submitters Primary pulmonary hypertension
p.Gln238Ter Multiple submitters Primary pulmonary hypertension
p.Gly63fs Multiple submitters Primary pulmonary hypertension
p.Pro366fs Multiple submitters Primary pulmonary hypertension
p.Pro739fs Multiple submitters Primary pulmonary hypertension
p.Trp13Ter Multiple submitters Primary pulmonary hypertension
p.Trp16Ter Multiple submitters Primary pulmonary hypertension
p.Trp466Ter Multiple submitters Primary pulmonary hypertension
p.Trp484Ter Multiple submitters Primary pulmonary hypertension
p.Trp508Ter Multiple submitters pulmonary arterial hypertension
p.Tyr282Ter Multiple submitters Primary pulmonary hypertension
p.Tyr67Cys Multiple submitters Primary pulmonary hypertension
c.1125_1128+16del Single submitter Primary pulmonary hypertension
c.1129-3C>G Single submitter Primary pulmonary hypertension
c.1277-1G>A Single submitter Primary pulmonary hypertension
c.1277-2A>G Single submitter Primary pulmonary hypertension
c.1414-2A>T Single submitter Primary pulmonary hypertension
c.248-1G>A Single submitter BMPR2-related disorder
c.76+2T>A Single submitter Primary pulmonary hypertension
c.76+2T>C Single submitter Primary pulmonary hypertension
c.76+4A>T Single submitter Primary pulmonary hypertension
c.77-?_418+?del Single submitter pulmonary hypertension, primary, 1
c.852+1G>A Single submitter Primary pulmonary hypertension
c.967+1G>T Single submitter pulmonary hypertension
c.(?_-63 Single submitter Idiopathic and/or familial pulmonary arterial hypertension
p.Ala490Val Single submitter Primary pulmonary hypertension
p.Arg266fs Single submitter pulmonary arterial hypertension
p.Arg321fs Single submitter Primary pulmonary hypertension
p.Arg357fs Single submitter Primary pulmonary hypertension
p.Arg381fs Single submitter Primary pulmonary hypertension
p.Arg459fs Single submitter pulmonary hypertension, primary, 1
p.Arg491Leu Single submitter Primary pulmonary hypertension
p.Arg535fs Single submitter Primary pulmonary hypertension
p.Arg584Ter Single submitter pulmonary venoocclusive disease 1
p.Arg857fs Single submitter
p.Asn343fs Single submitter Primary pulmonary hypertension
p.Asn583fs Single submitter Primary pulmonary hypertension
p.Asn817fs Single submitter Primary pulmonary hypertension
p.Asp148fs Single submitter Primary pulmonary hypertension
p.Asp199fs Single submitter Primary pulmonary hypertension
p.Asp448fs Single submitter
p.Cys116fs Single submitter Primary pulmonary hypertension
p.Cys117Ser Single submitter Primary pulmonary hypertension
p.Cys118Ser Single submitter Primary pulmonary hypertension
p.Cys288fs Single submitter
p.Cys288Ter Single submitter Primary pulmonary hypertension
p.Cys347Arg Single submitter Primary pulmonary hypertension
p.Cys66_Tyr67insTer Single submitter Primary pulmonary hypertension
p.Cys99Tyr Single submitter Primary pulmonary hypertension
p.Gln181Ter Single submitter pulmonary hypertension, primary, 1
p.Gln238fs Single submitter Primary pulmonary hypertension
p.Gln30Ter Single submitter pulmonary venoocclusive disease 1
p.Gln403Ter Single submitter Primary pulmonary hypertension
p.Gln41Ter Single submitter Primary pulmonary hypertension
p.Gln450Ter Single submitter Primary pulmonary hypertension
p.Gln458Ter Single submitter Primary pulmonary hypertension
p.Gln495Ter Single submitter pulmonary arterial hypertension
p.Gln720Ter Single submitter Primary pulmonary hypertension
p.Gln741Ter Single submitter
p.Gln875fs Single submitter Primary pulmonary hypertension
p.Gln918Ter Single submitter Primary pulmonary hypertension
p.Gln92fs Single submitter Primary pulmonary hypertension
p.Glu31Ter Single submitter Primary pulmonary hypertension
p.Glu368Ter Single submitter Primary pulmonary hypertension
p.Glu439fs Single submitter Primary pulmonary hypertension
p.Glu48fs Single submitter Primary pulmonary hypertension
p.Glu503fs Single submitter
p.Glu509Ter Single submitter Primary pulmonary hypertension
p.Glu785Ter Single submitter Primary pulmonary hypertension
p.Gly182fs Single submitter Primary pulmonary hypertension
p.Gly360fs Single submitter
p.Gly45_Ile46insTer Single submitter Primary pulmonary hypertension
p.His254fs Single submitter Primary pulmonary hypertension
p.His324fs Single submitter Primary pulmonary hypertension
p.His443fs Single submitter Primary pulmonary hypertension
p.His641fs Single submitter Primary pulmonary hypertension
p.His87fs Single submitter Primary pulmonary hypertension
p.Ile507fs Single submitter pulmonary hypertension, primary, 1
p.Ile711fs Single submitter Primary pulmonary hypertension
p.Leu122_Cys123insTer Single submitter
p.Leu222fs Single submitter pulmonary hypertension, primary, 1
p.Leu287Ter Single submitter Primary pulmonary hypertension
p.Leu291fs Single submitter Primary pulmonary hypertension
p.Leu476fs Single submitter Primary pulmonary hypertension
p.Leu831fs Single submitter Primary pulmonary hypertension
p.Lys204Ter Single submitter Primary pulmonary hypertension
p.Lys230fs Single submitter pulmonary hypertension, primary, 1
p.Lys402fs Single submitter Primary pulmonary hypertension
p.Lys512fs Single submitter Primary pulmonary hypertension
p.Met174_Leu175insTer Single submitter Primary pulmonary hypertension
p.Met383fs Single submitter Primary pulmonary hypertension
p.Met505fs Single submitter Primary pulmonary hypertension
p.Met791fs Single submitter Primary pulmonary hypertension
p.Phe115fs Single submitter
p.Phe352fs Single submitter Primary pulmonary hypertension
p.Phe773fs Single submitter Primary pulmonary hypertension
p.Phe851fs Single submitter Primary pulmonary hypertension
p.Pro15fs Single submitter Primary pulmonary hypertension
p.Pro735fs Single submitter Primary pulmonary hypertension
p.Ser107Ter Single submitter Primary pulmonary hypertension
p.Ser140fs Single submitter Primary pulmonary hypertension
p.Ser300fs Single submitter Primary pulmonary hypertension
p.Ser49fs Single submitter
p.Ser555fs Single submitter Primary pulmonary hypertension
p.Ser64Ter Single submitter Primary pulmonary hypertension
p.Thr137fs Single submitter Primary pulmonary hypertension
p.Thr445fs Single submitter Primary pulmonary hypertension
p.Thr493fs Single submitter Primary pulmonary hypertension
p.Thr517fs Single submitter Primary pulmonary hypertension
p.Trp298_Val299insTer Single submitter
p.Trp298Ter Single submitter Primary pulmonary hypertension
p.Trp85Ter Single submitter Primary pulmonary hypertension
p.Tyr113Ter Single submitter Primary pulmonary hypertension
p.Tyr218fs Single submitter Primary pulmonary hypertension
p.Tyr282fs Single submitter pulmonary hypertension, primary, 1
p.Tyr382fs Single submitter Primary pulmonary hypertension
p.Tyr40Ter Single submitter Primary pulmonary hypertension
p.Tyr413fs Single submitter Primary pulmonary hypertension
p.Tyr708Ter Single submitter Primary pulmonary hypertension
p.Val217fs Single submitter
p.Val267fs Single submitter Primary pulmonary hypertension
p.Val364fs Single submitter
p.Val392fs Single submitter Primary pulmonary hypertension
p.Val654fs Single submitter Primary pulmonary hypertension
c.1128+1G>T No assertion criteria pulmonary hypertension, primary, 1
c.1128+2T>G No assertion criteria pulmonary arterial hypertension
c.1129-1_1129dup No assertion criteria pulmonary hypertension, primary, 1
c.1277-10_1277-9insGGG No assertion criteria pulmonary hypertension, primary, 1
c.1277-?_1413+?del No assertion criteria pulmonary hypertension, primary, 1
c.1277-?_1413+?dup No assertion criteria pulmonary hypertension, primary, 1
c.1279delG No assertion criteria pulmonary hypertension, primary, 1
c.(1413+1_1414-1 No assertion criteria pulmonary hypertension, primary, 1
c.1413+3A>T No assertion criteria pulmonary hypertension, primary, 1
c.1414-?_2866+?del No assertion criteria pulmonary hypertension, primary, 1
c.248-3T>G No assertion criteria pulmonary hypertension, primary, 1
c.248-?_418+?del No assertion criteria pulmonary hypertension, primary, 1
c.248-?_418+?dup No assertion criteria pulmonary hypertension, primary, 1
c.248-5_248delinsAC No assertion criteria pulmonary hypertension, primary, 1
c.248-592_413delinsGTAAAGTA No assertion criteria pulmonary hypertension, primary, 1
c.(418+1_419-1 No assertion criteria pulmonary hypertension, primary, 1
c.418+1G>C No assertion criteria pulmonary hypertension, primary, 1
c.418+2_418+4delinsGAG No assertion criteria pulmonary hypertension, primary, 1
c.418+5_418+8del No assertion criteria pulmonary hypertension, primary, 1
c.419-?_1128+?dup No assertion criteria pulmonary hypertension, primary, 1
c.419-?_1413+?del No assertion criteria pulmonary hypertension, primary, 1
c.419-?_529+?del No assertion criteria pulmonary hypertension, primary, 1
c.419-?_621+?del No assertion criteria pulmonary hypertension, primary, 1
c.419-?_967+?del No assertion criteria pulmonary hypertension, primary, 1
c.51_814del No assertion criteria pulmonary hypertension, primary, 1
c.530-2A>G No assertion criteria pulmonary venoocclusive disease 1
c.530-?_621+?del No assertion criteria pulmonary hypertension, primary, 1
c.530-?_967+?del No assertion criteria pulmonary hypertension, primary, 1
c.621+1G>A No assertion criteria pulmonary arterial hypertension
c.622-?_852+?del No assertion criteria pulmonary hypertension, primary, 1
c.622-?_967+?del No assertion criteria pulmonary hypertension, primary, 1
c.(76+1_77-1 No assertion criteria pulmonary venoocclusive disease 1
c.76+1G>T No assertion criteria pulmonary hypertension, primary, 1
c.77-?_1276+?del No assertion criteria pulmonary hypertension, primary, 1
c.77-1G>A No assertion criteria pulmonary hypertension, primary, 1
c.77-?_247+?dup No assertion criteria pulmonary hypertension, primary, 1
c.77-35_86del No assertion criteria pulmonary hypertension, primary, 1
c.77-3572_418+119del No assertion criteria pulmonary arterial hypertension
c.77-?_418+?dup No assertion criteria pulmonary hypertension, primary, 1
c.77-?_621+?del No assertion criteria pulmonary hypertension, primary, 1
c.77-?_967+?dup No assertion criteria pulmonary hypertension, primary, 1
c.852_852+1insA No assertion criteria pulmonary arterial hypertension
c.852+1G>C No assertion criteria pulmonary hypertension, primary, 1
c.853-1G>C No assertion criteria pulmonary hypertension, primary, 1
c.853-?_967+?dup No assertion criteria pulmonary hypertension, primary, 1
c.967+2T>C No assertion criteria pulmonary hypertension, primary, 1
c.967+4del No assertion criteria pulmonary arterial hypertension
c.967+5G>C No assertion criteria pulmonary hypertension, primary, 1
c.967+5G>T No assertion criteria pulmonary hypertension, primary, 1
c.968-?_1128+?del No assertion criteria pulmonary hypertension, primary, 1
c.968-?_1276+?del No assertion criteria pulmonary hypertension, primary, 1
c.968-?_1413+?dup No assertion criteria pulmonary hypertension, primary, 1
c.968-1G>T No assertion criteria pulmonary hypertension, primary, 1
c.968-2A>C No assertion criteria pulmonary hypertension, primary, 1
c.(?_-1 No assertion criteria pulmonary hypertension, primary, 1
c.(?_-540 No assertion criteria pulmonary hypertension, primary, 1
c.-947_-946delinsAT No assertion criteria pulmonary hypertension, primary, 1
p.Ala167fs No assertion criteria pulmonary hypertension, primary, 1
p.Ala228fs No assertion criteria pulmonary arterial hypertension
p.Ala24Glu No assertion criteria pulmonary hypertension, primary, 1 ⚠
p.Ala269fs No assertion criteria pulmonary hypertension, primary, 1
p.Ala313Pro No assertion criteria pulmonary hypertension, primary, 1
p.Ala35fs No assertion criteria pulmonary hypertension, primary, 1
p.Ala372fs No assertion criteria pulmonary hypertension, primary, 1
p.Ala373_Ile374insTer No assertion criteria pulmonary venoocclusive disease 1
p.Ala465fs No assertion criteria pulmonary hypertension, primary, 1
p.Ala796fs No assertion criteria pulmonary hypertension, primary, 1
p.Ala810fs No assertion criteria pulmonary arterial hypertension
p.Ala843fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg10Trp No assertion criteria pulmonary hypertension, primary, 1 ⚠
p.Arg114fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg225fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg259fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg310Ter No assertion criteria pulmonary hypertension, primary, 1
p.Arg321dup No assertion criteria Genetic non-acquired premature ovarian failure
p.Arg32fs No assertion criteria pulmonary arterial hypertension
p.Arg337fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg365fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg529fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg770fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg7fs No assertion criteria pulmonary arterial hypertension
p.Arg842fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg890fs No assertion criteria pulmonary hypertension, primary, 1
p.Arg899Pro No assertion criteria pulmonary hypertension, primary, 1 ⚠
p.Asn124Asp No assertion criteria pulmonary hypertension, primary, 1
p.Asn124fs No assertion criteria pulmonary arterial hypertension
p.Asn519Lys No assertion criteria pulmonary hypertension, primary, 1 ⚠
p.Asn764fs No assertion criteria pulmonary hypertension, primary, 1
p.Asp264fs No assertion criteria pulmonary hypertension, primary, 1
p.Asp405fs No assertion criteria pulmonary hypertension, primary, 1
p.Asp485Asn No assertion criteria pulmonary hypertension, primary, 1
p.Asp485Gly No assertion criteria pulmonary arterial hypertension
p.Asp487Val No assertion criteria pulmonary hypertension, primary, 1
p.Cys116Arg No assertion criteria pulmonary arterial hypertension
p.Cys117Arg No assertion criteria pulmonary hypertension, primary, 1
p.Cys117Gly No assertion criteria pulmonary arterial hypertension
p.Cys118_Ser119delinsTer No assertion criteria pulmonary hypertension, primary, 1
p.Cys118fs No assertion criteria pulmonary hypertension, primary, 1
p.Cys123Arg No assertion criteria pulmonary arterial hypertension
p.Cys123Ser No assertion criteria pulmonary hypertension, primary, 1
p.Cys169_Phe170delinsTer No assertion criteria pulmonary hypertension, primary, 1
p.Cys169Ter No assertion criteria pulmonary hypertension, primary, 1
p.Cys397_Glu398delinsTer No assertion criteria pulmonary hypertension, primary, 1
p.Cys496Arg No assertion criteria pulmonary hypertension, primary, 1
p.Cys60Arg No assertion criteria pulmonary hypertension, primary, 1
p.Cys60Gly No assertion criteria pulmonary hypertension, primary, 1
p.Cys60Tyr No assertion criteria pulmonary hypertension, primary, 1
p.Cys655fs No assertion criteria pulmonary arterial hypertension
p.Cys66Arg No assertion criteria pulmonary hypertension, primary, 1
p.Cys66Gly No assertion criteria pulmonary hypertension, primary, 1
p.Cys66Tyr No assertion criteria pulmonary hypertension, primary, 1
p.Cys84Arg No assertion criteria pulmonary hypertension, primary, 1
p.Cys84Gly No assertion criteria pulmonary hypertension, primary, 1
p.Cys84Phe No assertion criteria pulmonary hypertension, primary, 1
p.Cys910Ter No assertion criteria pulmonary hypertension, primary, 1
p.Cys94Arg No assertion criteria pulmonary hypertension, primary, 1
p.Cys94Gly No assertion criteria pulmonary hypertension, primary, 1
p.Cys99Phe No assertion criteria pulmonary hypertension, primary, 1
p.Gln28Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln42Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln433Ter No assertion criteria Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
p.Gln458fs No assertion criteria pulmonary hypertension, primary, 1
p.Gln486Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln657fs No assertion criteria pulmonary hypertension, primary, 1
p.Gln657Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln6fs No assertion criteria pulmonary hypertension, primary, 1
p.Gln6Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln749fs No assertion criteria pulmonary arterial hypertension
p.Gln82His No assertion criteria Pulmonary hypertension, primary, dexfenfluramine-associated
p.Gln82Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln834Ter No assertion criteria pulmonary arterial hypertension
p.Gln844Ter No assertion criteria pulmonary arterial hypertension
p.Gln850Ter No assertion criteria pulmonary arterial hypertension
p.Gln876Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln913Ter No assertion criteria pulmonary hypertension, primary, 1
p.Gln92Ter No assertion criteria pulmonary hypertension, primary, 1
p.Glu195Ter No assertion criteria pulmonary venoocclusive disease 1
p.Glu207fs No assertion criteria pulmonary arterial hypertension
p.Glu243Gln No assertion criteria pulmonary hypertension, primary, 1
p.Glu243Ter No assertion criteria pulmonary hypertension, primary, 1
p.Glu265_Arg266delinsAspTer No assertion criteria pulmonary hypertension, primary, 1
p.Glu265Gly No assertion criteria pulmonary hypertension, primary, 1 ⚠
p.Glu265Ter No assertion criteria pulmonary arterial hypertension
p.Glu368fs No assertion criteria pulmonary hypertension, primary, 1
p.Glu415Ter No assertion criteria pulmonary hypertension, primary, 1
p.Glu431fs No assertion criteria pulmonary hypertension, primary, 1
p.Glu456fs No assertion criteria pulmonary hypertension, primary, 1
p.Glu464fs No assertion criteria pulmonary hypertension, primary, 1

Pathogenic/Likely pathogenic 11

c.1276+1G>A Multiple submitters Pulmonary arterial hypertension associated with congenital heart disease
c.621+1G>T Multiple submitters Primary pulmonary hypertension
p.Arg591Ter Multiple submitters BMPR2-related disorder
p.Arg873Ter Multiple submitters Primary pulmonary hypertension
p.Asn126Ser Multiple submitters Primary pulmonary hypertension
p.Cys496Tyr Multiple submitters Primary pulmonary hypertension
p.Gly390fs Multiple submitters pulmonary venoocclusive disease 1
p.Ser52_His53insTer Multiple submitters BMPR2-related disorder
p.Trp414Ter Multiple submitters Primary pulmonary hypertension
c.76+5G>A No assertion criteria pulmonary arterial hypertension
c.853-1G>A No assertion criteria pulmonary arterial hypertension

Likely pathogenic 71

c.1276+3A>G Expert panel pulmonary arterial hypertension
c.1276+3A>T Expert panel pulmonary arterial hypertension
c.1276+4A>G Expert panel pulmonary arterial hypertension
c.247+1_247+7del Expert panel pulmonary arterial hypertension
c.247+1G>A Expert panel pulmonary arterial hypertension
c.247+2del Expert panel pulmonary arterial hypertension
c.247+5G>A Expert panel pulmonary arterial hypertension
c.247+6T>G Expert panel pulmonary arterial hypertension
c.529+1G>A Expert panel pulmonary arterial hypertension
c.529+2dup Expert panel pulmonary arterial hypertension
p.Ala384Val Expert panel pulmonary arterial hypertension
p.Arg303His Expert panel pulmonary arterial hypertension ⚠
p.Cys347Tyr Expert panel pulmonary arterial hypertension
p.Cys420Phe Expert panel pulmonary arterial hypertension
p.Cys420Tyr Expert panel pulmonary arterial hypertension
p.Glu386Ala Expert panel pulmonary arterial hypertension
p.Glu386Gln Expert panel pulmonary arterial hypertension
p.Glu386Gly Expert panel pulmonary arterial hypertension
p.Glu386Lys Expert panel pulmonary arterial hypertension
p.Glu386Val Expert panel pulmonary arterial hypertension
p.Gly410Arg Expert panel pulmonary arterial hypertension
p.Leu340Pro Expert panel pulmonary arterial hypertension
p.Lys81Ter Expert panel pulmonary arterial hypertension
p.Met406Arg Expert panel pulmonary arterial hypertension
p.Val339Asp Expert panel pulmonary arterial hypertension
c.1129-2A>T Single submitter Primary pulmonary hypertension
c.248-2A>G Single submitter Primary pulmonary hypertension
c.419-1G>T Single submitter Primary pulmonary hypertension
c.77-1_77delinsAA Single submitter Primary pulmonary hypertension
p.Arg933Ter Single submitter
p.Asp487Glu Single submitter Primary pulmonary hypertension
p.Asp487His Single submitter pulmonary hypertension, primary, 1
p.Asp487Tyr Single submitter
p.Cys116Ser Single submitter Primary pulmonary hypertension
p.Cys118Tyr Single submitter pulmonary arterial hypertension
p.Cys496Trp Single submitter Primary pulmonary hypertension
p.Gln692fs Single submitter pulmonary venoocclusive disease 1
p.Glu398Ter Single submitter pulmonary hypertension, primary, 1
p.His819fs Single submitter pulmonary hypertension, primary, 1
p.Leu293fs Single submitter pulmonary hypertension, primary, 1
p.Leu5fs Single submitter
p.Lys477Glu Single submitter tooth agenesis, selective, 1
p.Met449Arg Single submitter Primary pulmonary hypertension
p.Phe424_Gly426delinsTer Single submitter Pulmonary arterial hypertension associated with congenital heart disease
p.Ser532Ter Single submitter pulmonary hypertension, primary, 1
p.Thr104fs Single submitter pulmonary hypertension, primary, 1
p.Val125Ala Single submitter pulmonary hypertension, primary, 1 ⚠
p.Val429fs Single submitter pulmonary hypertension, primary, 1
c.1277-305_1414-4736del No assertion criteria pulmonary arterial hypertension
c.1277-421_1414-2475del No assertion criteria pulmonary arterial hypertension
c.1413+4638_1586+1016del No assertion criteria pulmonary arterial hypertension
c.247+136_418+99del No assertion criteria pulmonary arterial hypertension
c.247+804_418+3005del No assertion criteria pulmonary arterial hypertension
c.417_418+2del No assertion criteria pulmonary arterial hypertension
c.418+1G>T No assertion criteria pulmonary arterial hypertension
c.419-5439_622-1285del No assertion criteria pulmonary arterial hypertension
c.621+1G>C No assertion criteria pulmonary arterial hypertension
c.621+428_967+3995del No assertion criteria pulmonary arterial hypertension
c.622-1G>T No assertion criteria pulmonary arterial hypertension
c.76+1G>A No assertion criteria pulmonary arterial hypertension
c.76+2T>G No assertion criteria pulmonary arterial hypertension
c.77-2315_248-646del No assertion criteria pulmonary arterial hypertension
c.852+316_967+2958del No assertion criteria pulmonary arterial hypertension
p.Ala497_Ala502del No assertion criteria pulmonary arterial hypertension
p.Arg419dup No assertion criteria pulmonary arterial hypertension
p.Asp669fs No assertion criteria pulmonary arterial hypertension
p.Gln848Ter No assertion criteria pulmonary arterial hypertension
p.His306Pro No assertion criteria pulmonary arterial hypertension
p.Leu206Ter No assertion criteria pulmonary arterial hypertension
p.Pro698_Leu699insTer No assertion criteria pulmonary venoocclusive disease 1
p.Ser779Ter No assertion criteria pulmonary arterial hypertension

Conflicting classifications of pathogenicity 70

c.248-3T>C Single submitter pulmonary hypertension, primary, 1
c.530-13C>A Single submitter Primary pulmonary hypertension
p.Ala305Val Single submitter Inborn genetic diseases ⚠
p.Ala714Ser Single submitter Primary pulmonary hypertension ⚠
p.Arg10Gln Single submitter Primary pulmonary hypertension ⚠
p.Arg147Gln Single submitter Inborn genetic diseases ⚠
p.Arg211Gln Single submitter Primary pulmonary hypertension ⚠
p.Arg259His Single submitter Primary pulmonary hypertension ⚠
p.Arg584Leu Single submitter Primary pulmonary hypertension ⚠
p.Arg857Gln Single submitter Inborn genetic diseases ⚠
p.Arg893Gln Single submitter Primary pulmonary hypertension ⚠
p.Arg974= Single submitter pulmonary hypertension, primary, 1
p.Asn236= Single submitter Primary pulmonary hypertension
p.Asn534Asp Single submitter Primary pulmonary hypertension ⚠
p.Asn583Lys Single submitter pulmonary hypertension, primary, 1 ⚠
p.Asp223His Single submitter pulmonary hypertension, primary, 1 ⚠
p.Asp405= Single submitter pulmonary hypertension, primary, 1
p.Cys483Arg Single submitter pulmonary hypertension, primary, 1 ⚠
p.Cys99Arg Single submitter Primary pulmonary hypertension ⚠
p.Cys99Trp Single submitter Primary pulmonary hypertension ⚠
p.Gln721Arg Single submitter Primary pulmonary hypertension ⚠
p.Gln844Glu Single submitter Primary pulmonary hypertension ⚠
p.Glu581Gly Single submitter Inborn genetic diseases ⚠
p.Glu785Lys Single submitter Primary pulmonary hypertension ⚠
p.Gly811Asp Single submitter Inborn genetic diseases ⚠
p.Gly882Asp Single submitter Primary pulmonary hypertension ⚠
p.His87= Single submitter pulmonary hypertension, primary, 1
p.Ile329Val Single submitter Inborn genetic diseases ⚠
p.Ile552Thr Single submitter Primary pulmonary hypertension ⚠
p.Ile579Val Single submitter Primary pulmonary hypertension ⚠
p.Ile77Thr Single submitter Inborn genetic diseases ⚠
p.Leu363= Single submitter pulmonary hypertension, primary, 1
p.Leu608Val Single submitter Primary pulmonary hypertension ⚠
p.Leu745Phe Single submitter Primary pulmonary hypertension ⚠
p.Leu751Val Single submitter Inborn genetic diseases ⚠
p.Leu887Phe Single submitter Inborn genetic diseases ⚠
p.Leu895Ile Single submitter Primary pulmonary hypertension ⚠
p.Lys37= Single submitter pulmonary hypertension, primary, 1
p.Met1Val Single submitter ⚠
p.Met434Ile Single submitter Inborn genetic diseases ⚠
p.Met505Thr Single submitter Primary pulmonary hypertension ⚠
p.Met572Ile Single submitter Inborn genetic diseases ⚠
p.Pro366Ala Single submitter Inborn genetic diseases ⚠
p.Pro39Leu Single submitter Primary pulmonary hypertension ⚠
p.Pro520Leu Single submitter Inborn genetic diseases ⚠
p.Ser27Leu Single submitter pulmonary hypertension, primary, 1 ⚠
p.Ser49Arg Single submitter Primary pulmonary hypertension ⚠
p.Ser61Leu Single submitter Inborn genetic diseases ⚠
p.Ser911Ala Single submitter Inborn genetic diseases ⚠
p.Ser987Phe Single submitter pulmonary hypertension, primary, 1 ⚠
p.Thr1024Ala Single submitter Primary pulmonary hypertension ⚠
p.Thr1026Ala Single submitter Primary pulmonary hypertension ⚠
p.Thr23Ile Single submitter Inborn genetic diseases ⚠
p.Thr346Ser Single submitter Primary pulmonary hypertension ⚠
p.Thr559= Single submitter pulmonary hypertension, primary, 1
p.Thr575Ile Single submitter Primary pulmonary hypertension ⚠
p.Thr613Ala Single submitter Inborn genetic diseases ⚠
p.Thr621Lys Single submitter Inborn genetic diseases ⚠
p.Thr621Met Single submitter pulmonary hypertension, primary, 1 ⚠
p.Thr643Ala Single submitter Inborn genetic diseases ⚠
p.Tyr214Phe Single submitter Primary pulmonary hypertension ⚠
p.Val1009Ile Single submitter Inborn genetic diseases ⚠
p.Val262Ala Single submitter Primary pulmonary hypertension ⚠
p.Val429Ile Single submitter Primary pulmonary hypertension ⚠
p.Val451Ala Single submitter Inborn genetic diseases ⚠
p.Val451Phe Single submitter Inborn genetic diseases ⚠
p.Val537= Single submitter pulmonary hypertension, primary, 1
p.Val563Met Single submitter pulmonary hypertension, primary, 1 ⚠
p.Val788Ile Single submitter Primary pulmonary hypertension ⚠
p.Asn202Tyr No assertion criteria pulmonary venoocclusive disease 1 ⚠

Benign 83

c.419-38del Expert panel pulmonary arterial hypertension
c.-669G>A Expert panel pulmonary arterial hypertension
c.-924A>G Expert panel pulmonary arterial hypertension
p.Arg873Gln Expert panel pulmonary arterial hypertension
c.1414-3C>T Multiple submitters Primary pulmonary hypertension
c.529+64C>T Multiple submitters
c.622-35A>T Multiple submitters
c.853-98C>G Multiple submitters
c.*106C>T Multiple submitters pulmonary hypertension, primary, 1
c.*1236C>A Multiple submitters pulmonary hypertension, primary, 1
c.*1466T>G Multiple submitters pulmonary hypertension, primary, 1
c.*1732T>C Multiple submitters pulmonary hypertension, primary, 1
c.*1999T>G Multiple submitters pulmonary hypertension, primary, 1
c.*3907G>C Multiple submitters pulmonary hypertension, primary, 1
c.*5243T>C Multiple submitters pulmonary hypertension, primary, 1
c.*5787T>G Multiple submitters pulmonary hypertension, primary, 1
c.*5998G>A Multiple submitters pulmonary hypertension, primary, 1
c.*7135A>G Multiple submitters pulmonary hypertension, primary, 1
c.*806C>T Multiple submitters Primary pulmonary hypertension
p.Arg937= Multiple submitters Primary pulmonary hypertension
p.Ser775Asn Multiple submitters Primary pulmonary hypertension
c.1129-236G>T Single submitter
c.1277-179A>C Single submitter
c.1277-295C>T Single submitter
c.1413+318C>T Single submitter
c.1414-14A>G Single submitter Primary pulmonary hypertension
c.1586+172T>A Single submitter
c.1586+290A>G Single submitter
c.1587-116A>G Single submitter
c.1587-12del Single submitter Primary pulmonary hypertension
c.247+248A>G Single submitter
c.2866+189G>C Single submitter
c.2866+228C>T Single submitter
c.418+212A>C Single submitter
c.418+55A>G Single submitter
c.418+82G>A Single submitter
c.530-14T>C Single submitter Primary pulmonary hypertension
c.530-221G>A Single submitter
c.853-12dup Single submitter Primary pulmonary hypertension
c.853-22dup Single submitter
c.853-23_853-22dup Single submitter
c.968-123_968-121del Single submitter
c.-212dup Single submitter
c.-704C>G Single submitter pulmonary hypertension, primary, 1
c.-963GGC[13] Single submitter
c.-963GGC[15] Single submitter
c.-963GGC[16] Single submitter
c.*1226C>A Single submitter pulmonary hypertension, primary, 1
c.*1306A>C Single submitter pulmonary hypertension, primary, 1
c.*130G>C Single submitter pulmonary hypertension, primary, 1
c.*1971C>T Single submitter pulmonary hypertension, primary, 1
c.*2173A>G Single submitter pulmonary hypertension, primary, 1
c.*221C>T Single submitter pulmonary hypertension, primary, 1
c.*2769T>A Single submitter pulmonary hypertension, primary, 1
c.*2901A>C Single submitter pulmonary hypertension, primary, 1
c.*2939A>G Single submitter pulmonary hypertension, primary, 1
c.*3061A>G Single submitter pulmonary hypertension, primary, 1
c.*3350G>T Single submitter pulmonary hypertension, primary, 1
c.*378T>G Single submitter pulmonary hypertension, primary, 1
c.*4584T>A Single submitter pulmonary hypertension, primary, 1
c.*4903A>C Single submitter pulmonary hypertension, primary, 1
c.*4905C>A Single submitter pulmonary hypertension, primary, 1
c.*5031C>T Single submitter pulmonary hypertension, primary, 1
c.*5044A>G Single submitter pulmonary hypertension, primary, 1
c.*5127C>T Single submitter pulmonary hypertension, primary, 1
c.*6108G>T Single submitter pulmonary hypertension, primary, 1
c.*621G>A Single submitter
c.*6354C>A Single submitter pulmonary hypertension, primary, 1
c.*6695C>T Single submitter pulmonary hypertension, primary, 1
c.*6879A>G Single submitter pulmonary hypertension, primary, 1
c.*7306A>G Single submitter pulmonary hypertension, primary, 1
c.*7388C>T Single submitter pulmonary hypertension, primary, 1
c.*7496T>C Single submitter pulmonary hypertension, primary, 1
c.*7776C>T Single submitter pulmonary hypertension, primary, 1
c.*995G>A Single submitter pulmonary hypertension, primary, 1
p.Ala646Val Single submitter Primary pulmonary hypertension
p.Arg365Cys Single submitter Primary pulmonary hypertension ⚠
p.Arg529Cys Single submitter Primary pulmonary hypertension
p.Arg886His Single submitter Primary pulmonary hypertension
p.Arg899Gln Single submitter Primary pulmonary hypertension
p.Gln844Arg Single submitter Primary pulmonary hypertension
p.Pro91Leu Single submitter Primary pulmonary hypertension
c.-963GGC[9] No assertion criteria BMPR2-related disorder

Benign/Likely benign 19

c.621+37C>G Multiple submitters
c.621+8T>C Multiple submitters Primary pulmonary hypertension
c.-301G>A Multiple submitters pulmonary hypertension, primary, 1
c.-927A>G Multiple submitters pulmonary hypertension, primary, 1
p.Arg225His Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Asn55= Multiple submitters Primary pulmonary hypertension
p.Gly625= Multiple submitters Primary pulmonary hypertension
p.Leu183= Multiple submitters pulmonary hypertension, primary, 1
p.Leu200= Multiple submitters Inborn genetic diseases
p.Leu916= Multiple submitters Primary pulmonary hypertension
p.Pro327= Multiple submitters Primary pulmonary hypertension
p.Ser27= Multiple submitters pulmonary hypertension, primary, 1
p.Ser3= Multiple submitters pulmonary hypertension, primary, 1
p.Ser815Asn Multiple submitters Inborn genetic diseases
p.Thr23Ala Multiple submitters pulmonary hypertension, primary, 1
p.Thr793= Multiple submitters Primary pulmonary hypertension
p.Thr836Ala Multiple submitters Primary pulmonary hypertension
p.Tyr543= Multiple submitters Primary pulmonary hypertension
p.Val21= Multiple submitters pulmonary hypertension, primary, 1

Likely benign 434

Showing the top 300 by review status; the full set is in the sitemap.

c.1587-7_1587-4del Expert panel pulmonary arterial hypertension
c.-93A>G Expert panel pulmonary arterial hypertension
p.Arg886Cys Expert panel pulmonary arterial hypertension ⚠
p.Arg983Gln Expert panel pulmonary arterial hypertension
p.Asn29Ser Expert panel pulmonary arterial hypertension
p.Gln92His Expert panel pulmonary arterial hypertension
p.Gly729Ala Expert panel pulmonary arterial hypertension
p.Gly963Cys Expert panel pulmonary arterial hypertension ⚠
p.Leu504= Expert panel pulmonary arterial hypertension
p.Lys74Glu Expert panel pulmonary arterial hypertension
p.Thr346Asn Expert panel pulmonary arterial hypertension ⚠
p.Tyr589Cys Expert panel pulmonary arterial hypertension
p.Val348Ile Expert panel pulmonary arterial hypertension ⚠
c.621+103C>G Multiple submitters
c.852+63A>T Multiple submitters
c.852+88T>C Multiple submitters
c.853-21dup Multiple submitters
p.Ala408= Multiple submitters Inborn genetic diseases
p.Ala826= Multiple submitters Primary pulmonary hypertension
p.Arg1007= Multiple submitters Inborn genetic diseases
p.Arg459= Multiple submitters Inborn genetic diseases
p.Arg50= Multiple submitters pulmonary hypertension, primary, 1
p.Arg500= Multiple submitters Inborn genetic diseases
p.Arg934Thr Multiple submitters Primary pulmonary hypertension ⚠
p.Arg985= Multiple submitters Primary pulmonary hypertension
p.Asn146= Multiple submitters Primary pulmonary hypertension
p.Asn242= Multiple submitters Inborn genetic diseases
p.Asn849= Multiple submitters Inborn genetic diseases
p.Asp264= Multiple submitters Primary pulmonary hypertension
p.Asp323= Multiple submitters Primary pulmonary hypertension
p.Asp344= Multiple submitters Inborn genetic diseases
p.Asp351= Multiple submitters Inborn genetic diseases
p.Asp448= Multiple submitters Primary pulmonary hypertension
p.Asp855= Multiple submitters Primary pulmonary hypertension
p.Asp962= Multiple submitters Inborn genetic diseases
p.Cys60= Multiple submitters Inborn genetic diseases
p.Gln109= Multiple submitters Primary pulmonary hypertension
p.Gln28= Multiple submitters Inborn genetic diseases
p.Gln749= Multiple submitters Inborn genetic diseases
p.Glu318= Multiple submitters Primary pulmonary hypertension
p.Glu368= Multiple submitters Inborn genetic diseases
p.Glu431= Multiple submitters Primary pulmonary hypertension
p.Glu439= Multiple submitters Inborn genetic diseases
p.Glu499= Multiple submitters Inborn genetic diseases
p.Glu553= Multiple submitters Primary pulmonary hypertension
p.Glu98= Multiple submitters Primary pulmonary hypertension
p.Gly171= Multiple submitters Primary pulmonary hypertension
p.Gly220= Multiple submitters Inborn genetic diseases
p.Gly426= Multiple submitters Primary pulmonary hypertension
p.Gly56= Multiple submitters Inborn genetic diseases
p.Gly580= Multiple submitters Primary pulmonary hypertension
p.Gly878= Multiple submitters Inborn genetic diseases
p.Gly951= Multiple submitters Primary pulmonary hypertension
p.Gly966= Multiple submitters Primary pulmonary hypertension
p.His814= Multiple submitters Primary pulmonary hypertension
p.Ile257= Multiple submitters Primary pulmonary hypertension
p.Ile562= Multiple submitters Primary pulmonary hypertension
p.Ile838Thr Multiple submitters Inborn genetic diseases
p.Ile971= Multiple submitters Primary pulmonary hypertension
p.Leu164= Multiple submitters Inborn genetic diseases
p.Leu205= Multiple submitters Primary pulmonary hypertension
p.Leu251= Multiple submitters Primary pulmonary hypertension
p.Leu452= Multiple submitters Inborn genetic diseases
p.Leu59= Multiple submitters Primary pulmonary hypertension
p.Leu658= Multiple submitters Primary pulmonary hypertension
p.Leu831= Multiple submitters Inborn genetic diseases
p.Lys582= Multiple submitters Primary pulmonary hypertension
p.Lys782= Multiple submitters Primary pulmonary hypertension
p.Pro15= Multiple submitters Inborn genetic diseases
p.Pro39= Multiple submitters Inborn genetic diseases
p.Pro633= Multiple submitters Inborn genetic diseases
p.Pro769= Multiple submitters Primary pulmonary hypertension
p.Ser1013= Multiple submitters Inborn genetic diseases
p.Ser1030= Multiple submitters Primary pulmonary hypertension
p.Ser286= Multiple submitters Inborn genetic diseases
p.Ser375= Multiple submitters Primary pulmonary hypertension
p.Ser454= Multiple submitters Primary pulmonary hypertension
p.Ser49= Multiple submitters Inborn genetic diseases
p.Ser515= Multiple submitters pulmonary hypertension, primary, 1
p.Ser567= Multiple submitters Primary pulmonary hypertension
p.Ser604= Multiple submitters Inborn genetic diseases
p.Ser701= Multiple submitters Primary pulmonary hypertension
p.Ser907= Multiple submitters Inborn genetic diseases
p.Ser944= Multiple submitters Inborn genetic diseases
p.Ser987= Multiple submitters Inborn genetic diseases
p.Ser995= Multiple submitters Primary pulmonary hypertension
p.Thr268= Multiple submitters Inborn genetic diseases
p.Thr578= Multiple submitters Primary pulmonary hypertension
p.Thr606= Multiple submitters Inborn genetic diseases
p.Thr614= Multiple submitters Inborn genetic diseases
p.Thr621= Multiple submitters pulmonary hypertension, primary, 1
p.Thr638= Multiple submitters Primary pulmonary hypertension
p.Thr786= Multiple submitters Inborn genetic diseases
p.Thr829= Multiple submitters Primary pulmonary hypertension
p.Thr923= Multiple submitters Inborn genetic diseases
p.Thr988= Multiple submitters Inborn genetic diseases
p.Tyr413= Multiple submitters Inborn genetic diseases
p.Tyr708= Multiple submitters Primary pulmonary hypertension
p.Val163= Multiple submitters Inborn genetic diseases
p.Val514= Multiple submitters Inborn genetic diseases
p.Val990= Multiple submitters Inborn genetic diseases
c.1128+12C>T Single submitter Primary pulmonary hypertension
c.1128+6dup Single submitter Primary pulmonary hypertension
c.1129-10A>T Single submitter Primary pulmonary hypertension
c.1129-16C>A Single submitter Primary pulmonary hypertension
c.1129-19del Single submitter Primary pulmonary hypertension
c.1276+10A>G Single submitter Primary pulmonary hypertension
c.1276+11C>G Single submitter Primary pulmonary hypertension
c.1276+14T>G Single submitter Primary pulmonary hypertension
c.1276+15C>A Single submitter Primary pulmonary hypertension
c.1276+16A>C Single submitter Primary pulmonary hypertension
c.1277-16T>C Single submitter Primary pulmonary hypertension
c.1277-189del Single submitter
c.1277-4A>G Single submitter Primary pulmonary hypertension
c.1413+10A>T Single submitter Primary pulmonary hypertension
c.1414-37dup Single submitter
c.1587-15T>C Single submitter Primary pulmonary hypertension
c.1587-18T>C Single submitter Primary pulmonary hypertension
c.247+8A>G Single submitter Primary pulmonary hypertension
c.247+8A>T Single submitter Primary pulmonary hypertension
c.248-12A>G Single submitter Primary pulmonary hypertension
c.248-20G>C Single submitter Primary pulmonary hypertension
c.2866+14del Single submitter Primary pulmonary hypertension
c.2866+17T>C Single submitter Primary pulmonary hypertension
c.2866+17T>G Single submitter Primary pulmonary hypertension
c.2866+7G>A Single submitter Primary pulmonary hypertension
c.2867-13C>T Single submitter Primary pulmonary hypertension
c.2867-16G>A Single submitter Primary pulmonary hypertension
c.418+11T>A Single submitter Primary pulmonary hypertension
c.418+13A>C Single submitter Primary pulmonary hypertension
c.418+17A>G Single submitter Primary pulmonary hypertension
c.418+19T>A Single submitter Primary pulmonary hypertension
c.419-12G>T Single submitter Primary pulmonary hypertension
c.419-13T>C Single submitter Primary pulmonary hypertension
c.419-14T>C Single submitter Primary pulmonary hypertension
c.419-17A>C Single submitter Primary pulmonary hypertension
c.419-38T>A Single submitter
c.529+10dup Single submitter Primary pulmonary hypertension
c.530-19C>T Single submitter Primary pulmonary hypertension
c.530-4A>C Single submitter Primary pulmonary hypertension
c.621+15A>T Single submitter Primary pulmonary hypertension
c.621+4A>C Single submitter pulmonary hypertension, primary, 1
c.622-4G>T Single submitter Primary pulmonary hypertension
c.76+17G>A Single submitter Primary pulmonary hypertension
c.76+8G>C Single submitter Primary pulmonary hypertension
c.77-14T>C Single submitter Primary pulmonary hypertension
c.853-12T>C Single submitter Primary pulmonary hypertension
c.853-20G>A Single submitter Primary pulmonary hypertension
c.853-6A>G Single submitter Primary pulmonary hypertension
c.853-6A>T Single submitter Primary pulmonary hypertension
c.853-8C>T Single submitter Primary pulmonary hypertension
c.967+13A>G Single submitter Primary pulmonary hypertension
c.-310A>G Single submitter pulmonary hypertension, primary, 1
c.-921A>G Single submitter
c.-963GGC[14] Single submitter
c.*309del Single submitter
c.*3353T>C Single submitter pulmonary hypertension, primary, 1
c.*3446G>A Single submitter pulmonary hypertension, primary, 1
c.*6001T>C Single submitter pulmonary hypertension, primary, 1
c.*6525G>A Single submitter pulmonary hypertension, primary, 1
p.Ala1020Thr Single submitter Primary pulmonary hypertension
p.Ala156= Single submitter Inborn genetic diseases
p.Ala167= Single submitter Inborn genetic diseases
p.Ala25= Single submitter Inborn genetic diseases
p.Ala328= Single submitter Inborn genetic diseases
p.Ala35= Single submitter Inborn genetic diseases
p.Ala465= Single submitter Primary pulmonary hypertension
p.Ala488= Single submitter Inborn genetic diseases
p.Ala594= Single submitter Inborn genetic diseases
p.Ala596= Single submitter Inborn genetic diseases
p.Ala646= Single submitter Inborn genetic diseases
p.Ala714= Single submitter Primary pulmonary hypertension
p.Ala717= Single submitter Inborn genetic diseases
p.Ala717Val Single submitter Inborn genetic diseases
p.Ala731= Single submitter Inborn genetic diseases
p.Ala789Val Single submitter Primary pulmonary hypertension
p.Ala821= Single submitter Inborn genetic diseases
p.Arg179= Single submitter Inborn genetic diseases
p.Arg213= Single submitter Inborn genetic diseases
p.Arg225= Single submitter Inborn genetic diseases
p.Arg237His Single submitter Primary pulmonary hypertension
p.Arg272= Single submitter Inborn genetic diseases
p.Arg272His Single submitter Primary pulmonary hypertension
p.Arg362= Single submitter Inborn genetic diseases
p.Arg365= Single submitter Inborn genetic diseases
p.Arg365His Single submitter Primary pulmonary hypertension ⚠
p.Arg50Ser Single submitter Primary pulmonary hypertension
p.Arg510= Single submitter Inborn genetic diseases
p.Arg591Gln Single submitter Primary pulmonary hypertension
p.Arg597Leu Single submitter Developmental disorder ⚠
p.Arg7= Single submitter Inborn genetic diseases
p.Arg770= Single submitter Primary pulmonary hypertension
p.Arg842= Single submitter Inborn genetic diseases
p.Arg899Gly Single submitter Primary pulmonary hypertension
p.Asn1001= Single submitter Inborn genetic diseases
p.Asn1002= Single submitter Inborn genetic diseases
p.Asn1003= Single submitter Inborn genetic diseases
p.Asn1036= Single submitter Primary pulmonary hypertension
p.Asn187= Single submitter Inborn genetic diseases
p.Asn284Ser Single submitter Primary pulmonary hypertension
p.Asn338= Single submitter Inborn genetic diseases
p.Asn361= Single submitter Primary pulmonary hypertension
p.Asn371= Single submitter Inborn genetic diseases
p.Asn469= Single submitter Inborn genetic diseases
p.Asn565Ser Single submitter Primary pulmonary hypertension
p.Asn611= Single submitter Inborn genetic diseases
p.Asn813= Single submitter Inborn genetic diseases
p.Asn837= Single submitter Inborn genetic diseases
p.Asn859= Single submitter
p.Asp135= Single submitter Inborn genetic diseases
p.Asp223= Single submitter Inborn genetic diseases
p.Asp482= Single submitter Inborn genetic diseases
p.Asp485= Single submitter Inborn genetic diseases
p.Asp554= Single submitter Inborn genetic diseases
p.Asp560= Single submitter Inborn genetic diseases
p.Asp662= Single submitter Inborn genetic diseases
p.Asp669= Single submitter Primary pulmonary hypertension
p.Asp682= Single submitter Primary pulmonary hypertension
p.Asp736= Single submitter Inborn genetic diseases
p.Asp76= Single submitter Inborn genetic diseases
p.Asp914= Single submitter Inborn genetic diseases
p.Asp997= Single submitter Inborn genetic diseases
p.Cys116= Single submitter Inborn genetic diseases
p.Cys118= Single submitter Inborn genetic diseases
p.Cys169= Single submitter Inborn genetic diseases
p.Cys420= Single submitter Inborn genetic diseases
p.Cys483= Single submitter Inborn genetic diseases
p.Gln41= Single submitter Inborn genetic diseases
p.Gln437= Single submitter Inborn genetic diseases
p.Gln450= Single submitter Inborn genetic diseases
p.Gln720= Single submitter Inborn genetic diseases
p.Gln748= Single submitter Inborn genetic diseases
p.Gln824= Single submitter Primary pulmonary hypertension
p.Gln850= Single submitter Inborn genetic diseases
p.Gln875= Single submitter Inborn genetic diseases
p.Gln876= Single submitter Inborn genetic diseases
p.Gln936= Single submitter Inborn genetic diseases
p.Gln955= Single submitter Inborn genetic diseases
p.Glu224= Single submitter Primary pulmonary hypertension
p.Glu280= Single submitter Inborn genetic diseases
p.Glu369= Single submitter Inborn genetic diseases
p.Glu427Asp Single submitter Primary pulmonary hypertension ⚠
p.Glu509= Single submitter Inborn genetic diseases
p.Glu581= Single submitter Primary pulmonary hypertension
p.Glu590= Single submitter Inborn genetic diseases
p.Glu664= Single submitter Inborn genetic diseases
p.Glu679= Single submitter Inborn genetic diseases
p.Glu687= Single submitter Inborn genetic diseases
p.Glu768= Single submitter Inborn genetic diseases
p.Glu798= Single submitter Inborn genetic diseases
p.Glu866= Single submitter Inborn genetic diseases
p.Glu874= Single submitter Inborn genetic diseases
p.Glu93= Single submitter Inborn genetic diseases
p.Glu958= Single submitter Inborn genetic diseases
p.Glu999= Single submitter Inborn genetic diseases
p.Gly1004= Single submitter Primary pulmonary hypertension
p.Gly390= Single submitter Inborn genetic diseases
p.Gly410= Single submitter Inborn genetic diseases
p.Gly441= Single submitter Inborn genetic diseases
p.Gly75= Single submitter Inborn genetic diseases
p.Gly787= Single submitter Inborn genetic diseases
p.Gly897= Single submitter Inborn genetic diseases
p.Gly897Asp Single submitter Primary pulmonary hypertension
p.Gly919Val Single submitter Inborn genetic diseases
p.Gly928= Single submitter Inborn genetic diseases
p.Gly963= Single submitter Primary pulmonary hypertension
p.His316= Single submitter Inborn genetic diseases
p.His53= Single submitter Inborn genetic diseases
p.His688= Single submitter Inborn genetic diseases
p.His777= Single submitter Inborn genetic diseases
p.His800= Single submitter Inborn genetic diseases
p.Ile1033= Single submitter Inborn genetic diseases
p.Ile153= Single submitter Inborn genetic diseases
p.Ile153Val Single submitter Primary pulmonary hypertension
p.Ile18Val Single submitter Inborn genetic diseases
p.Ile329= Single submitter Inborn genetic diseases
p.Ile46Leu Single submitter Primary pulmonary hypertension
p.Ile480= Single submitter Inborn genetic diseases
p.Ile507= Single submitter Inborn genetic diseases
p.Ile540= Single submitter Inborn genetic diseases
p.Ile556= Single submitter Inborn genetic diseases
p.Ile598= Single submitter Inborn genetic diseases
p.Ile649= Single submitter Inborn genetic diseases
p.Ile649Val Single submitter Primary pulmonary hypertension
p.Leu122= Single submitter Inborn genetic diseases
p.Leu139= Single submitter Inborn genetic diseases
p.Leu14= Single submitter Inborn genetic diseases
p.Leu155= Single submitter Primary pulmonary hypertension
p.Leu175= Single submitter Inborn genetic diseases
p.Leu208= Single submitter Inborn genetic diseases
p.Leu222= Single submitter Inborn genetic diseases
p.Leu293= Single submitter Inborn genetic diseases
p.Leu315= Single submitter Inborn genetic diseases
p.Leu33= Single submitter Primary pulmonary hypertension
p.Leu340= Single submitter Inborn genetic diseases
p.Leu388= Single submitter Inborn genetic diseases
p.Leu394= Single submitter Inborn genetic diseases
p.Leu411= Single submitter Inborn genetic diseases
p.Leu476= Single submitter Inborn genetic diseases
p.Leu656= Single submitter Inborn genetic diseases

Uncertain significance 884

Showing the top 300 by review status; the full set is in the sitemap.

c.1277-9A>C Expert panel pulmonary arterial hypertension
c.419-10T>C Expert panel pulmonary arterial hypertension
c.529+2T>C Expert panel pulmonary arterial hypertension
c.968-3C>G Expert panel pulmonary arterial hypertension
p.Ala494Val Expert panel pulmonary arterial hypertension ⚠
p.Arg266Thr Expert panel pulmonary arterial hypertension ⚠
p.Arg419Ser Expert panel pulmonary arterial hypertension ⚠
p.Arg536His Expert panel pulmonary arterial hypertension ⚠
p.Arg842Ser Expert panel pulmonary arterial hypertension ⚠
p.Asn393Ser Expert panel pulmonary arterial hypertension ⚠
p.Gln42Arg Expert panel pulmonary arterial hypertension ⚠
p.Glu376Lys Expert panel pulmonary arterial hypertension ⚠
p.Glu503Asp Expert panel pulmonary arterial hypertension ⚠
p.Gly182Asp Expert panel pulmonary arterial hypertension ⚠
p.Gly311Glu Expert panel pulmonary arterial hypertension ⚠
p.Gly378Val Expert panel pulmonary arterial hypertension ⚠
p.Gly47Asp Expert panel pulmonary arterial hypertension ⚠
p.Ile566= Expert panel pulmonary arterial hypertension
p.Leu363Val Expert panel pulmonary arterial hypertension ⚠
p.Leu401Ser Expert panel pulmonary arterial hypertension ⚠
p.Met506Val Expert panel pulmonary arterial hypertension ⚠
p.Thr628Ala Expert panel pulmonary arterial hypertension ⚠
p.Tyr407Ser Expert panel pulmonary arterial hypertension ⚠
p.Val392Ala Expert panel pulmonary arterial hypertension ⚠
p.Val784= Expert panel pulmonary arterial hypertension
c.2867-3C>G Multiple submitters pulmonary hypertension, primary, 1
c.529+4A>G Multiple submitters Primary pulmonary hypertension
c.-407G>T Multiple submitters pulmonary hypertension, primary, 1
c.-434G>A Multiple submitters pulmonary hypertension, primary, 1
c.-594A>G Multiple submitters pulmonary hypertension, primary, 1
c.*2491T>C Multiple submitters pulmonary hypertension, primary, 1
c.*2833G>A Multiple submitters pulmonary hypertension, primary, 1
c.*2854T>G Multiple submitters pulmonary hypertension, primary, 1
c.*3354G>T Multiple submitters pulmonary hypertension, primary, 1
c.*5252A>G Multiple submitters pulmonary hypertension, primary, 1
c.*5535G>A Multiple submitters pulmonary hypertension, primary, 1
c.*5624A>G Multiple submitters pulmonary hypertension, primary, 1
c.*6731G>A Multiple submitters pulmonary hypertension, primary, 1
c.*7080G>A Multiple submitters pulmonary hypertension, primary, 1
c.*7273G>A Multiple submitters pulmonary hypertension, primary, 1
c.*815C>T Multiple submitters pulmonary hypertension, primary, 1
p.Ala328Val Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ala35Val Multiple submitters Inborn genetic diseases ⚠
p.Ala796Thr Multiple submitters Primary pulmonary hypertension ⚠
p.Arg114His Multiple submitters Inborn genetic diseases ⚠
p.Arg225Cys Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Arg32Gln Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Arg529His Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Arg770Trp Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Arg857Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn588Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn639Asp Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Asp682Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp722Asn Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Gln486Arg Multiple submitters Primary pulmonary hypertension ⚠
p.Gln834Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln936Arg Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Glu31Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu661del Multiple submitters pulmonary hypertension, primary, 1
p.Glu661Gln Multiple submitters Primary pulmonary hypertension ⚠
p.Glu994Asp Multiple submitters BMPR2-related disorder ⚠
p.Gly177Arg Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Gly811Ser Multiple submitters Primary pulmonary hypertension ⚠
p.Gly882Val Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.His324Arg Multiple submitters Inborn genetic diseases ⚠
p.His814Arg Multiple submitters Primary pulmonary hypertension ⚠
p.His819Tyr Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ile246Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile257Val Multiple submitters Primary pulmonary hypertension ⚠
p.Ile46Val Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ile562Val Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ile587Met Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ile58Val Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Leu733Phe Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Lys512Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys678Arg Multiple submitters pulmonary venoocclusive disease 1 ⚠
p.Met1035Ile Multiple submitters Inborn genetic diseases ⚠
p.Met273Arg Multiple submitters Primary pulmonary hypertension ⚠
p.Met273Val Multiple submitters Inborn genetic diseases ⚠
p.Met572Leu Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Met626Ile Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Phe417Cys Multiple submitters Inborn genetic diseases ⚠
p.Phe723Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe773Leu Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Pro142Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro142Ser Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Pro250Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser296Asn Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ser300Arg Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ser454Phe Multiple submitters Primary pulmonary hypertension ⚠
p.Ser568Phe Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ser689Cys Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ser922Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser952Gly Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Ser995Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr1026Ile Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Thr112Lys Multiple submitters Primary pulmonary hypertension ⚠
p.Thr268Ser Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Thr309Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr523Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr603Ala Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Thr606Ser Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Thr65Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr756Ala Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Thr993Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr993Ser Multiple submitters Inborn genetic diseases ⚠
p.Tyr743Cys Multiple submitters pulmonary hypertension, primary, 1 ⚠
p.Val1000Ile Multiple submitters Inborn genetic diseases ⚠
p.Val888Ala Multiple submitters pulmonary hypertension, primary, 1 ⚠
c.1128+4A>C Single submitter pulmonary hypertension, primary, 1
c.1129-14C>G Single submitter
c.1129-9A>G Single submitter Primary pulmonary hypertension
c.2866+1541G>T Single submitter
c.2866+3A>T Single submitter
c.621+3A>G Single submitter
c.622-8A>T Single submitter pulmonary hypertension, primary, 1
c.77-6T>G Single submitter Primary pulmonary hypertension
c.852+4A>G Single submitter Primary pulmonary hypertension
c.852+5G>A Single submitter pulmonary hypertension, primary, 1
c.967+17A>C Single submitter
c.967+5G>A Single submitter Primary pulmonary hypertension
c.-1114A>C Single submitter pulmonary hypertension, primary, 1
c.-313G>A Single submitter pulmonary hypertension, primary, 1
c.-344G>T Single submitter pulmonary hypertension, primary, 1
c.-425G>T Single submitter pulmonary hypertension, primary, 1
c.-575A>T Single submitter pulmonary hypertension, primary, 1
c.-702C>T Single submitter pulmonary hypertension, primary, 1
c.-70G>T Single submitter pulmonary hypertension, primary, 1
c.-753C>T Single submitter pulmonary hypertension, primary, 1
c.-837G>T Single submitter pulmonary hypertension, primary, 1
c.-871G>A Single submitter pulmonary hypertension, primary, 1
c.-922C>T Single submitter pulmonary hypertension, primary, 1
c.-930G>A Single submitter pulmonary hypertension, primary, 1
c.-933G>A Single submitter pulmonary hypertension, primary, 1
c.*121C>A Single submitter pulmonary hypertension, primary, 1
c.*1401C>T Single submitter pulmonary hypertension, primary, 1
c.*1474T>C Single submitter pulmonary hypertension, primary, 1
c.*1499C>T Single submitter pulmonary hypertension, primary, 1
c.*1662T>G Single submitter pulmonary hypertension, primary, 1
c.*2035C>T Single submitter pulmonary hypertension, primary, 1
c.*2144G>T Single submitter pulmonary hypertension, primary, 1
c.*2315G>A Single submitter pulmonary hypertension, primary, 1
c.*2350A>G Single submitter pulmonary hypertension, primary, 1
c.*241C>T Single submitter pulmonary hypertension, primary, 1
c.*2519A>G Single submitter pulmonary hypertension, primary, 1
c.*2963T>C Single submitter pulmonary hypertension, primary, 1
c.*2994A>T Single submitter pulmonary hypertension, primary, 1
c.*3017C>T Single submitter pulmonary hypertension, primary, 1
c.*3364G>A Single submitter pulmonary hypertension, primary, 1
c.*3415C>T Single submitter pulmonary hypertension, primary, 1
c.*3498dup Single submitter
c.*3554C>T Single submitter pulmonary hypertension, primary, 1
c.*3646A>T Single submitter pulmonary hypertension, primary, 1
c.*4205G>A Single submitter pulmonary hypertension, primary, 1
c.*4364C>T Single submitter pulmonary hypertension, primary, 1
c.*445T>C Single submitter pulmonary hypertension, primary, 1
c.*453C>A Single submitter pulmonary hypertension, primary, 1
c.*454G>A Single submitter pulmonary hypertension, primary, 1
c.*4706T>G Single submitter pulmonary hypertension, primary, 1
c.*4821G>C Single submitter pulmonary hypertension, primary, 1
c.*488C>A Single submitter pulmonary hypertension, primary, 1
c.*491T>A Single submitter pulmonary hypertension, primary, 1
c.*5025G>T Single submitter pulmonary hypertension, primary, 1
c.*5038T>A Single submitter pulmonary hypertension, primary, 1
c.*5152A>G Single submitter pulmonary hypertension, primary, 1
c.*5154C>T Single submitter pulmonary hypertension, primary, 1
c.*5198A>C Single submitter pulmonary hypertension, primary, 1
c.*5246C>T Single submitter pulmonary hypertension, primary, 1
c.*5408G>T Single submitter pulmonary hypertension, primary, 1
c.*5522C>T Single submitter pulmonary hypertension, primary, 1
c.*5808C>T Single submitter pulmonary hypertension, primary, 1
c.*5914A>G Single submitter pulmonary hypertension, primary, 1
c.*5946C>T Single submitter pulmonary hypertension, primary, 1
c.*5990A>C Single submitter pulmonary hypertension, primary, 1
c.*607C>T Single submitter pulmonary hypertension, primary, 1
c.*6142T>A Single submitter pulmonary hypertension, primary, 1
c.*6362G>T Single submitter pulmonary hypertension, primary, 1
c.*6505C>G Single submitter pulmonary hypertension, primary, 1
c.*6576T>C Single submitter pulmonary hypertension, primary, 1
c.*6683G>A Single submitter pulmonary hypertension, primary, 1
c.*6820T>C Single submitter pulmonary hypertension, primary, 1
c.*686C>G Single submitter pulmonary hypertension, primary, 1
c.*700T>C Single submitter pulmonary hypertension, primary, 1
c.*7097A>C Single submitter pulmonary hypertension, primary, 1
c.*734G>C Single submitter pulmonary hypertension, primary, 1
c.*7419G>C Single submitter pulmonary hypertension, primary, 1
c.*7463T>A Single submitter pulmonary hypertension, primary, 1
c.*7505T>G Single submitter pulmonary hypertension, primary, 1
c.*7750G>T Single submitter pulmonary hypertension, primary, 1
c.*77A>G Single submitter pulmonary hypertension, primary, 1
c.*896T>C Single submitter pulmonary hypertension, primary, 1
c.*952T>G Single submitter pulmonary hypertension, primary, 1
p.Ala1008Glu Single submitter Inborn genetic diseases ⚠
p.Ala1008Thr Single submitter pulmonary hypertension, primary, 1 ⚠
p.Ala156Val Single submitter Inborn genetic diseases ⚠
p.Ala167Gly Single submitter Inborn genetic diseases ⚠
p.Ala167Pro Single submitter Inborn genetic diseases ⚠
p.Ala192Val Single submitter Inborn genetic diseases ⚠
p.Ala193Gly Single submitter Inborn genetic diseases ⚠
p.Ala193Thr Single submitter Inborn genetic diseases ⚠
p.Ala216Thr Single submitter Inborn genetic diseases ⚠
p.Ala235Val Single submitter Inborn genetic diseases ⚠
p.Ala24Thr Single submitter Inborn genetic diseases ⚠
p.Ala25Val Single submitter Inborn genetic diseases ⚠
p.Ala269Val Single submitter ⚠
p.Ala305Pro Single submitter Inborn genetic diseases ⚠
p.Ala372Thr Single submitter Primary pulmonary hypertension ⚠
p.Ala400Thr Single submitter Inborn genetic diseases ⚠
p.Ala408Val Single submitter Inborn genetic diseases ⚠
p.Ala465Ser Single submitter Inborn genetic diseases ⚠
p.Ala465Val Single submitter Inborn genetic diseases ⚠
p.Ala472Ser Single submitter Inborn genetic diseases ⚠
p.Ala472Thr Single submitter pulmonary hypertension, primary, 1 ⚠
p.Ala490Ser Single submitter Inborn genetic diseases ⚠
p.Ala497Val Single submitter Inborn genetic diseases ⚠
p.Ala502Asp Single submitter Inborn genetic diseases ⚠
p.Ala502Pro Single submitter Inborn genetic diseases ⚠
p.Ala594Pro Single submitter Inborn genetic diseases ⚠
p.Ala596Thr Single submitter Inborn genetic diseases ⚠
p.Ala714Gly Single submitter Inborn genetic diseases ⚠
p.Ala714Pro Single submitter Inborn genetic diseases ⚠
p.Ala714Thr Single submitter Inborn genetic diseases ⚠
p.Ala717Glu Single submitter Inborn genetic diseases ⚠
p.Ala717Thr Single submitter Inborn genetic diseases ⚠
p.Ala727Val Single submitter Inborn genetic diseases ⚠
p.Ala731Thr Single submitter Inborn genetic diseases ⚠
p.Ala789Ser Single submitter Inborn genetic diseases ⚠
p.Ala789Thr Single submitter Inborn genetic diseases ⚠
p.Ala797Ser Single submitter Inborn genetic diseases ⚠
p.Ala797Thr Single submitter Inborn genetic diseases ⚠
p.Ala797Val Single submitter pulmonary hypertension, primary, 1 ⚠
p.Ala821Val Single submitter Inborn genetic diseases ⚠
p.Ala826Thr Single submitter Inborn genetic diseases ⚠
p.Ala877Thr Single submitter Inborn genetic diseases ⚠
p.Ala917Pro Single submitter Inborn genetic diseases ⚠
p.Ala917Val Single submitter Inborn genetic diseases ⚠
p.Ala924Glu Single submitter Inborn genetic diseases ⚠
p.Ala925Gly Single submitter Inborn genetic diseases ⚠
p.Ala935Thr Single submitter Inborn genetic diseases ⚠
p.Ala935Val Single submitter Inborn genetic diseases ⚠
p.Ala945Val Single submitter Inborn genetic diseases ⚠
p.Arg1007Met Single submitter Inborn genetic diseases ⚠
p.Arg114Cys Single submitter Primary pulmonary hypertension ⚠
p.Arg147Pro Single submitter Inborn genetic diseases ⚠
p.Arg213Gln Single submitter Inborn genetic diseases ⚠
p.Arg237Cys Single submitter Inborn genetic diseases ⚠
p.Arg259Cys Single submitter pulmonary hypertension, primary, 1 ⚠
p.Arg266Ser Single submitter pulmonary hypertension, primary, 1 ⚠
p.Arg303Cys Single submitter pulmonary hypertension, primary, 1 ⚠
p.Arg310Ile Single submitter Inborn genetic diseases ⚠
p.Arg32Trp Single submitter Inborn genetic diseases ⚠
p.Arg357Lys Single submitter Inborn genetic diseases ⚠
p.Arg381Gly Single submitter Inborn genetic diseases ⚠
p.Arg419Lys Single submitter Inborn genetic diseases ⚠
p.Arg455Thr Single submitter Inborn genetic diseases ⚠
p.Arg459Lys Single submitter Inborn genetic diseases ⚠
p.Arg459Thr Single submitter Inborn genetic diseases ⚠
p.Arg510Ser Single submitter Inborn genetic diseases ⚠
p.Arg535Lys Single submitter Inborn genetic diseases ⚠
p.Arg584Gln Single submitter Inborn genetic diseases ⚠
p.Arg597Gly Single submitter Inborn genetic diseases ⚠
p.Arg754Gly Single submitter Inborn genetic diseases ⚠
p.Arg770Gln Single submitter Inborn genetic diseases ⚠
p.Arg842Lys Single submitter Inborn genetic diseases ⚠
p.Arg857Leu Single submitter Inborn genetic diseases ⚠
p.Arg886Ser Single submitter Inborn genetic diseases ⚠
p.Arg890Lys Single submitter Inborn genetic diseases ⚠
p.Arg891Lys Single submitter Inborn genetic diseases ⚠
p.Arg893Leu Single submitter Inborn genetic diseases ⚠
p.Arg893Pro Single submitter Inborn genetic diseases ⚠
p.Arg893Trp Single submitter Inborn genetic diseases ⚠
p.Arg933Gly Single submitter Inborn genetic diseases ⚠
p.Arg983Leu Single submitter Inborn genetic diseases ⚠
p.Arg983Trp Single submitter Inborn genetic diseases ⚠
p.Arg985Cys Single submitter Inborn genetic diseases ⚠
p.Arg985His Single submitter Inborn genetic diseases ⚠
p.Asn1001Ser Single submitter Inborn genetic diseases ⚠
p.Asn1002His Single submitter Inborn genetic diseases ⚠
p.Asn1003Ser Single submitter Inborn genetic diseases ⚠
p.Asn1006His Single submitter Inborn genetic diseases ⚠
p.Asn1006Lys Single submitter Inborn genetic diseases ⚠
p.Asn1036fs Single submitter
p.Asn110Ser Single submitter Inborn genetic diseases ⚠
p.Asn202Ser Single submitter Inborn genetic diseases ⚠
p.Asn239Ser Single submitter Inborn genetic diseases ⚠
p.Asn245Lys Single submitter Primary pulmonary hypertension ⚠
p.Asn335Thr Single submitter Inborn genetic diseases ⚠
p.Asn343Ser Single submitter Inborn genetic diseases ⚠
p.Asn442Ser Single submitter Inborn genetic diseases ⚠
p.Asn527Lys Single submitter Inborn genetic diseases ⚠
p.Asn527Tyr Single submitter Inborn genetic diseases ⚠
p.Asn530Ile Single submitter Inborn genetic diseases ⚠
p.Asn530Lys Single submitter Inborn genetic diseases ⚠
p.Asn583Thr Single submitter Inborn genetic diseases ⚠
p.Asn585Ile Single submitter Inborn genetic diseases ⚠
p.Asn588Asp Single submitter Inborn genetic diseases ⚠
p.Asn588Lys Single submitter Inborn genetic diseases ⚠
p.Asn644Asp Single submitter Inborn genetic diseases ⚠
p.Asn666Ser Single submitter Inborn genetic diseases ⚠
p.Asn684Ser Single submitter Inborn genetic diseases ⚠