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Gene entry

NSD1

nuclear receptor binding SET domain protein 1

Chromosome
5
Cytoband
5q35.3
Variants (rsID)
54

NSD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q35.3). Its official name is “nuclear receptor binding SET domain protein 1”. The reference table lists 54 variants (rsID) for this gene.

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Clinically classified variants

41 reference-table entries with clinical significance.

  • rs115722008Benignsingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs145987330Benignsingle nucleotide variantBeckwith-Wiedemann syndrome|History of neurodevelopmental disorder|Sotos syndrome 1
  • rs199814669Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Sotos syndrome 1
  • rs28932177Benignsingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs28932178Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Sotos syndrome 1
  • rs34165241Benignsingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs35848863Benignsingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs3733875Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Sotos syndrome 1
  • rs61744451Benignsingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs78247455Benignsingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs113856002Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs140229717Conflicting interpretationssingle nucleotide variantWeaver syndrome|Sotos syndrome|Beckwith-Wiedemann syndrome|History of neurodevelopmental disorder|Sotos syndrome 1
  • rs140815139Conflicting interpretationssingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs150296373Conflicting interpretationssingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder|Beckwith-Wiedemann syndrome
  • rs150920473Conflicting interpretationssingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs199639292Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs201857437Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs34921128Conflicting interpretationssingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs368706736Conflicting interpretationssingle nucleotide variantBeckwith-Wiedemann syndrome|Sotos syndrome 1
  • rs374740802Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs398124386Conflicting interpretationssingle nucleotide variantBeckwith-Wiedemann syndrome|Sotos syndrome 1
  • rs559617787Conflicting interpretationssingle nucleotide variantSotos syndrome 1|History of neurodevelopmental disorder
  • rs570278983Conflicting interpretationssingle nucleotide variantSotos syndrome|Weaver syndrome|Beckwith-Wiedemann syndrome|Sotos syndrome 1
  • rs587784075Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs61749654Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs61756006Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Sotos syndrome 1
  • rs775759198Conflicting interpretationssingle nucleotide variantSotos syndrome 1
  • rs1057520339Pathogenicsingle nucleotide variantBeckwith-Wiedemann syndrome|Acute myeloid leukemia|Sotos syndrome 1
  • rs121908070Pathogenicsingle nucleotide variantSotos syndrome 1|Sotos syndrome
  • rs201327209Pathogenicsingle nucleotide variantSotos syndrome 1
  • rs398124379PathogenicDeletionSotos syndrome 1
  • rs587784076Pathogenicsingle nucleotide variantSotos syndrome 1|Beckwith-Wiedemann syndrome
  • rs587784096Pathogenicsingle nucleotide variantSotos syndrome 1
  • rs587784104PathogenicMicrosatelliteSotos syndrome 1|Beckwith-Wiedemann syndrome
  • rs587784152PathogenicMicrosatelliteSotos syndrome 1
  • rs587784173Pathogenicsingle nucleotide variantSotos syndrome 1
  • rs587784197PathogenicDeletionSotos syndrome 1
  • rs587784206PathogenicDeletionSotos syndrome 1
  • rs797045813PathogenicDuplicationSotos syndrome 1
  • rs886041218Pathogenicsingle nucleotide variantBeckwith-Wiedemann syndrome|Sotos syndrome 1
  • rs144524958Uncertain significancesingle nucleotide variantSotos syndrome 1|Sotos syndrome 1|Acute myeloid leukemia

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.