Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

KMT2D

lysine methyltransferase 2D

Chromosome
12
Cytoband
12q13.12
Variants (rsID)
38

KMT2D is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.12). Its official name is “lysine methyltransferase 2D”. The reference table lists 38 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

36 reference-table entries with clinical significance.

  • rs11168830Benignsingle nucleotide variantKabuki syndrome
  • rs112236653Benignsingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs146044282Benignsingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs147706410Benignsingle nucleotide variantKabuki syndrome 1|Kabuki syndrome
  • rs148457961Benignsingle nucleotide variantKabuki syndrome
  • rs181733689Benignsingle nucleotide variantKabuki syndrome 1|Kabuki syndrome
  • rs192659833Benignsingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs373414243Benignsingle nucleotide variantKabuki syndrome
  • rs55865069Benignsingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs75937132Benignsingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs80132640Benignsingle nucleotide variantKabuki syndrome
  • rs112170602Conflicting interpretationssingle nucleotide variantKabuki syndrome 1|Kabuki syndrome
  • rs113282510Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs143711798Conflicting interpretationssingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs199547661Conflicting interpretationssingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs200088180Conflicting interpretationssingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs201089405Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs201114196Conflicting interpretationssingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs201686029Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs201931833Conflicting interpretationssingle nucleotide variantKabuki syndrome|Kabuki syndrome 1
  • rs3741625Conflicting interpretationssingle nucleotide variantKabuki syndrome 1|Kabuki syndrome
  • rs374418866Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs377452989Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs398123714Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs398123756Conflicting interpretationssingle nucleotide variantKabuki syndrome
  • rs73302197Conflicting interpretationssingle nucleotide variantKabuki syndrome 1|Kabuki syndrome
  • rs201794205Likely benignsingle nucleotide variantKabuki syndrome
  • rs267607237Pathogenicsingle nucleotide variantKabuki syndrome 1|Kabuki syndrome
  • rs398123716PathogenicDeletion
  • rs398123744PathogenicDeletionKabuki syndrome 1|Kabuki syndrome
  • rs398123753PathogenicDeletionKabuki syndrome 1|Kabuki syndrome
  • rs587783703PathogenicDeletionKabuki syndrome 1|Kabuki syndrome
  • rs587783711Pathogenicsingle nucleotide variantKabuki syndrome 1
  • rs794727688Pathogenicsingle nucleotide variantInborn genetic diseases|Kabuki syndrome
  • rs797045659Pathogenicsingle nucleotide variantKabuki syndrome 1|Inborn genetic diseases|Kabuki syndrome
  • rs267607238Uncertain significancesingle nucleotide variantKabuki syndrome 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.