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Gene entry

BLM

BLM RecQ like helicase

Chromosome
15
Cytoband
15q26.1
Variants (rsID)
55

BLM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q26.1). Its official name is “BLM RecQ like helicase”. The reference table lists 55 variants (rsID) for this gene.

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Clinically classified variants

35 reference-table entries with clinical significance.

  • rs141503266Benignsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs145310008Benignsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs183176301Benignsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs28384988Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome
  • rs56009845Benignsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs138542210Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Microcephaly
  • rs138831180Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome
  • rs142551229Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs144706057Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs146013879Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs149754073Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome
  • rs1801256Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs181161119Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome
  • rs191789336Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Bloom syndrome
  • rs200250931Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs200850440Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome
  • rs28377085Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs28385028Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs35224686Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs375632163Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome
  • rs56257041Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs576199850Conflicting interpretationssingle nucleotide variantBloom syndrome
  • rs759223856Conflicting interpretationssingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs367543036Likely pathogenicsingle nucleotide variantBloom syndrome
  • rs1057516964Pathogenicsingle nucleotide variantBloom syndrome
  • rs200389141Pathogenicsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs367543017Pathogenicsingle nucleotide variantBloom syndrome
  • rs367543024PathogenicDeletionBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs367543029Pathogenicsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs367543035PathogenicDeletionBloom syndrome
  • rs587779884Pathogenicsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs587783037Pathogenicsingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs786204471PathogenicInsertionBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs367543032Uncertain significancesingle nucleotide variantBloom syndrome|Hereditary cancer-predisposing syndrome
  • rs55880859Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Bloom syndrome|Hereditary breast ovarian cancer 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.