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Gene entry

LAMP2

lysosome associated membrane protein 2

Chromosome
X
Cytoband
Xq24
Variants (rsID)
27

LAMP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq24). Its official name is “lysosome associated membrane protein 2”. The reference table lists 27 variants (rsID) for this gene.

Clinically classified variants

19 reference-table entries with clinical significance.

  • rs141541387Benignsingle nucleotide variantCardiovascular phenotype|Danon disease|History of neurodevelopmental disorder
  • rs2748Benignsingle nucleotide variantDanon disease|Hypertrophic cardiomyopathy
  • rs375341409Benignsingle nucleotide variantTrifascicular block on electrocardiogram|Danon disease
  • rs5957381Benignsingle nucleotide variantDanon disease|Hypertrophic cardiomyopathy
  • rs138991195Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Hypertrophic cardiomyopathy|Danon disease|Cardiomyopathy
  • rs141574558Conflicting interpretationssingle nucleotide variantDanon disease
  • rs147369153Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Danon disease|Hypertrophic cardiomyopathy|History of neurodevelopmental disorder|Cardiomyopathy
  • rs149276836Conflicting interpretationssingle nucleotide variantDanon disease|Cardiomyopathy
  • rs201030806Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Danon disease|Cardiovascular phenotype
  • rs193922649Likely pathogenicDeletionPrimary familial hypertrophic cardiomyopathy|Danon disease
  • rs397516738Likely pathogenicDeletionHypertrophic cardiomyopathy
  • rs397516739Likely pathogenicDuplicationHypertrophic cardiomyopathy
  • rs397516752Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs104894858Pathogenicsingle nucleotide variantDanon disease|Hypertrophic cardiomyopathy|Danon disease
  • rs137852527Pathogenicsingle nucleotide variantDanon disease
  • rs397516751PathogenicDeletionDanon disease|Hypertrophic cardiomyopathy
  • rs727503119Pathogenicsingle nucleotide variantDanon disease
  • rs727503120Pathogenicsingle nucleotide variantDanon disease|Hypertrophic cardiomyopathy
  • rs200297370Uncertain significancesingle nucleotide variant

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.