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Gene entry

BMPR1A

bone morphogenetic protein receptor type 1A

Chromosome
10
Cytoband
10q23.2
Variants (rsID)
60

BMPR1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.2). Its official name is “bone morphogenetic protein receptor type 1A”. The reference table lists 60 variants (rsID) for this gene.

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Clinically classified variants

34 reference-table entries with clinical significance.

  • rs200537780Benignsingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|Polyposis syndrome, hereditary mixed, 2
  • rs367550999Benignsingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs7074064Benignsingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs140592056Conflicting interpretationssingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Gastrointestinal polyposis|Malignant tumor of breast|Juvenile polyposis syndrome
  • rs186999445Conflicting interpretationssingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs35619497Conflicting interpretationssingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Polyposis syndrome, hereditary mixed, 2|Juvenile polyposis syndrome|Carcinoma of colon
  • rs587782334Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs587782494Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs751420248Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs876658515Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|Polyposis syndrome, hereditary mixed, 2
  • rs876659520Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs149787558Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1064796072Likely pathogenicDeletion
  • rs199476086Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs587781407Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587782388Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs587783038Likely pathogenicInsertionGeneralized juvenile polyposis/juvenile polyposis coli
  • rs878854672Likely pathogenicsingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs1064794031PathogenicDeletionHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1230919713Pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs1392086533Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs199476087Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs199476088Pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs587780109PathogenicDeletion
  • rs730881431Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786201038PathogenicDeletionHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs786201040Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs786201715PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786204187PathogenicDeletionGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs869312783PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs876658891Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs876660442PathogenicDuplicationHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1404557708Uncertain significancesingle nucleotide variantJuvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
  • rs587780107Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome

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.