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Gene entry

BMPR2

bone morphogenetic protein receptor type 2

Chromosome
2
Cytoband
2q33.1-q33.2
Variants (rsID)
32

BMPR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q33.1-q33.2). Its official name is “bone morphogenetic protein receptor type 2”. The reference table lists 32 variants (rsID) for this gene.

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Clinically classified variants

22 reference-table entries with clinical significance.

  • rs115604088Benignsingle nucleotide variantPulmonary hypertension, primary, 1|Primary pulmonary hypertension
  • rs148682262Benignsingle nucleotide variantPulmonary hypertension, primary, 1|Primary pulmonary hypertension
  • rs2228545Benignsingle nucleotide variantPulmonary hypertension, primary, 1|Primary pulmonary hypertension
  • rs6435156Benignsingle nucleotide variantPulmonary hypertension, primary, 1|Primary pulmonary hypertension
  • rs148099152Conflicting interpretationssingle nucleotide variantPulmonary hypertension, primary, 1|8 conditions|Primary pulmonary hypertension
  • rs201067849Conflicting interpretationssingle nucleotide variantPulmonary hypertension, primary, 1|Primary pulmonary hypertension|Genetic non-acquired premature ovarian failure|Tooth agenesis, selective, 1
  • rs374694591Conflicting interpretationssingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension associated with another disease|Pulmonary arterial hypertension
  • rs137852741Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary hypertension, primary, 1|Pulmonary venoocclusive disease 1, autosomal dominant|Pulmonary arterial hypertension|Primary pulmonary hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension
  • rs137852742Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension
  • rs137852743Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension|Primary pulmonary hypertension
  • rs137852744Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension
  • rs137852745Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension
  • rs137852746Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension
  • rs137852747Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1
  • rs137852748Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Primary pulmonary hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension
  • rs137852749Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension|Primary pulmonary hypertension
  • rs137852750Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension
  • rs137852751Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Primary pulmonary hypertension
  • rs137852753Pathogenicsingle nucleotide variantPulmonary hypertension, primary, dexfenfluramine-associated|Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension|Primary pulmonary hypertension
  • rs863223420Pathogenicsingle nucleotide variantPulmonary hypertension, primary, 1|Idiopathic and/or familial pulmonary arterial hypertension|Pulmonary arterial hypertension|Primary pulmonary hypertension
  • rs137852754Uncertain significancesingle nucleotide variantPulmonary hypertension, primary, fenfluramine-associated|9 conditions|Pulmonary hypertension, primary, 1
  • rs200948870Uncertain significancesingle nucleotide variantPulmonary hypertension, primary, 1

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.