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Gene entry

PCNT

pericentrin

Chromosome
21
Cytoband
21q22.3
Variants (rsID)
66

PCNT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “pericentrin”. The reference table lists 66 variants (rsID) for this gene.

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Clinically classified variants

42 reference-table entries with clinical significance.

  • rs111389121Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs143796569Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II|Intellectual disability
  • rs144471022Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs147189224Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs186701249Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs33956783Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs34151633Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs34849154Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs35044802Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs35848602Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs60078675Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs61735812Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs61735819Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs61735820Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs62224222Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs6518289Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs76287849Benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs113731555Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs115369710Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs139581644Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs140398533Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs141771795Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs143511166Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs145119952Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II|Microcephaly
  • rs148444313Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs150554265Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs150882711Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs151325202Conflicting interpretationssingle nucleotide variant
  • rs193261408Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs368199588Conflicting interpretationssingle nucleotide variant
  • rs372175239Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs61735808Conflicting interpretationssingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs117987006Likely benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs143028464Likely benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs35557109Likely benignsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs119479062Pathogenicsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs119479063Pathogenicsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs151020551Pathogenicsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs181690344Pathogenicsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs369195346Pathogenicsingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs147358856Uncertain significancesingle nucleotide variantMicrocephalic osteodysplastic primordial dwarfism type II
  • rs147637351Uncertain 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.