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Gene entry

GUCY2D

guanylate cyclase 2D, retinal

Chromosome
17
Cytoband
17p13.1
Variants (rsID)
10

GUCY2D is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “guanylate cyclase 2D, retinal”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs34598902Benignsingle nucleotide variantLeber congenital amaurosis 1|Cone-rod dystrophy 6|Leber congenital amaurosis 1
  • rs9905402Benignsingle nucleotide variantCone-rod dystrophy 6|Leber congenital amaurosis 1
  • rs61750187Likely pathogenicsingle nucleotide variantLeber congenital amaurosis 1
  • rs61750168Pathogenicsingle nucleotide variantCone-rod dystrophy 6|Leber congenital amaurosis 1|Leber congenital amaurosis 1|Leber congenital amaurosis|Night blindness, congenital stationary, type1i|Cone-rod dystrophy 6|Choroidal dystrophy, central areolar, 1|Leber congenital amaurosis 1|Retinal dystrophy
  • rs61750174Uncertain significancesingle nucleotide variantCone-rod dystrophy 6|Leber congenital amaurosis 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.