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Gene entry

TMEM67

transmembrane protein 67

Chromosome
8
Cytoband
8q22.1
Variants (rsID)
29

TMEM67 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q22.1). Its official name is “transmembrane protein 67”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs117195541Benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 14|Meckel syndrome, type 3|Nephronophthisis 11|Joubert syndrome 6
  • rs35793208Benignsingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3
  • rs73324992Benignsingle nucleotide variant
  • rs115563233Conflicting interpretationssingle nucleotide variantNephronophthisis|Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3|Nephronophthisis 11|Joubert syndrome 6
  • rs115660279Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3|Joubert syndrome 6|Nephronophthisis 11
  • rs199821258Conflicting interpretationssingle nucleotide variantJoubert syndrome 6|Meckel syndrome, type 3|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome and related disorders
  • rs372597584Conflicting interpretationssingle nucleotide variantJoubert syndrome 6|Nephronophthisis 11|Meckel syndrome, type 3|Meckel-Gruber syndrome|Joubert syndrome
  • rs386834182Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 3|Joubert syndrome and related disorders|Joubert syndrome|Meckel-Gruber syndrome
  • rs767999682Conflicting interpretationssingle nucleotide variantJoubert syndrome 6|Meckel syndrome, type 3|Nephronophthisis 11|Meckel-Gruber syndrome|Joubert syndrome
  • rs772437766Conflicting interpretationssingle nucleotide variantJoubert syndrome 6
  • rs886038738Conflicting interpretationssingle nucleotide variantJoubert syndrome 6|Meckel syndrome, type 3|Nephronophthisis 11|Meckel-Gruber syndrome|Joubert syndrome
  • rs137853107Pathogenicsingle nucleotide variantJoubert syndrome 6|COACH syndrome 1|Meckel-Gruber syndrome|Joubert syndrome
  • rs137853108Pathogenicsingle nucleotide variantJoubert syndrome 6|Meckel syndrome, type 3|TMEM67-Related Disorders|Joubert syndrome|Meckel-Gruber syndrome|RHYNS syndrome
  • rs201893408Pathogenicsingle nucleotide variantJoubert syndrome 6|Nephronophthisis 11|Nephronophthisis|TMEM67-Related Disorders|Oligohydramnios|Joubert syndrome|Renal cyst|Meckel-Gruber syndrome|Joubert syndrome|Inborn genetic diseases|14 conditions|Joubert syndrome 6|Bardet-Biedl syndrome 14|Meckel syndrome, type 3|COACH syndrome 1|Nephronophthisis 11|RHYNS syndrome
  • rs202149403Pathogenicsingle nucleotide variantJoubert syndrome 6|Nephronophthisis|Meckel-Gruber syndrome|Joubert syndrome
  • rs267607114Pathogenicsingle nucleotide variantJoubert syndrome 6
  • rs267607115Pathogenicsingle nucleotide variantCOACH syndrome 1|Joubert syndrome 6|Meckel-Gruber syndrome|Joubert syndrome
  • rs267607119Pathogenicsingle nucleotide variantCOACH syndrome 1|Joubert syndrome 6|Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3|6 conditions|Joubert syndrome and related disorders
  • rs386834180Pathogenicsingle nucleotide variantMeckel syndrome, type 3|Meckel-Gruber syndrome|Joubert syndrome 6|6 conditions|Joubert syndrome|Meckel-Gruber syndrome|TMEM67-Related Disorders
  • rs758948621Pathogenicsingle nucleotide variantCOACH syndrome 1|Joubert syndrome 6
  • rs863225235Pathogenicsingle nucleotide variantJoubert syndrome 6|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 3|Nephronophthisis 11|COACH syndrome 1|Joubert syndrome 6|Bardet-Biedl syndrome 14
  • rs386834183Uncertain significancesingle nucleotide variantMeckel syndrome, type 3|Joubert syndrome|Meckel-Gruber syndrome
  • rs386834193Uncertain significancesingle nucleotide variantMeckel syndrome, type 3

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.