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Gene entry

MKS1

MKS transition zone complex subunit 1

Chromosome
17
Cytoband
17q22
Variants (rsID)
18

MKS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q22). Its official name is “MKS transition zone complex subunit 1”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs116514023Benignsingle nucleotide variantMeckel syndrome, type 1|Bardet-Biedl syndrome 13
  • rs111315726Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13|Meckel syndrome, type 1
  • rs137853105Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 13|Nystagmus|Polydactyly|Hypotonia|Meckel syndrome, type 1|Bardet-Biedl syndrome 13|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 28
  • rs142813109Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 13|Meckel syndrome, type 1|Meckel-Gruber syndrome|Joubert syndrome
  • rs199910690Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 13|Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 1|Microcephaly
  • rs201619500Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 1|Bardet-Biedl syndrome|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13
  • rs201845569Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 1
  • rs201998680Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 1|Bardet-Biedl syndrome 13|Meckel-Gruber syndrome|Joubert syndrome
  • rs369488349Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 13|Meckel syndrome, type 1|Meckel-Gruber syndrome|Joubert syndrome
  • rs370117125Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 13|Meckel syndrome, type 1|Meckel-Gruber syndrome|Joubert syndrome
  • rs386834048Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 1|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 1|Bardet-Biedl syndrome 13|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13
  • rs386834053Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 1|Leber congenital amaurosis 6|Meckel syndrome, type 1|Joubert syndrome|Meckel-Gruber syndrome
  • rs386834044PathogenicDuplicationMeckel syndrome, type 1|Joubert syndrome|MKS1-Related Disorders|Joubert syndrome 28|Bardet-Biedl syndrome 13|Joubert syndrome|Meckel-Gruber syndrome
  • rs754279998PathogenicDeletionJoubert syndrome|Joubert syndrome 28|Rotary nystagmus|Global developmental delay|Chronic kidney disease|Limb undergrowth|Polydactyly|Bardet-Biedl syndrome 13|Meckel syndrome, type 1|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13|Meckel syndrome, type 1
  • rs773684291Pathogenicsingle nucleotide variantJoubert syndrome|Joubert syndrome 28|Bardet-Biedl syndrome 13|Meckel syndrome, type 1|Meckel-Gruber syndrome|Joubert syndrome
  • rs151023718Uncertain significancesingle nucleotide variantBardet-Biedl syndrome 13|Meckel syndrome, type 1|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13|Meckel syndrome, type 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.