Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

RPGRIP1L

RPGRIP1 like

Chromosome
16
Cytoband
16q12.2
Variants (rsID)
45

RPGRIP1L is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q12.2). Its official name is “RPGRIP1 like”. The reference table lists 45 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

26 reference-table entries with clinical significance.

  • rs11863101Benignsingle nucleotide variantMeckel syndrome, type 5|Joubert syndrome 7|Nephronophthisis 8|Joubert syndrome|Meckel-Gruber syndrome
  • rs139974543Benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 5|Joubert syndrome 7|Nephronophthisis 8|Joubert syndrome
  • rs1946155Benignsingle nucleotide variantMeckel syndrome, type 5|Nephronophthisis 8|Joubert syndrome 7
  • rs2111119Benignsingle nucleotide variantMeckel syndrome, type 5|Joubert syndrome 7|Nephronophthisis 8|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs2302677Benignsingle nucleotide variantJoubert syndrome 7|Meckel syndrome, type 5|Nephronophthisis 8|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs3213758Benignsingle nucleotide variantNephronophthisis 8|Joubert syndrome 7|Meckel syndrome, type 5|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs61743997Benignsingle nucleotide variantNephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs61747071Benignsingle nucleotide variantRetinitis pigmentosa in ciliopathies, modifier of|Joubert syndrome|Nephronophthisis|Meckel syndrome, type 5|Meckel-Gruber syndrome|Joubert syndrome|Nephronophthisis 8|Joubert syndrome 7
  • rs121918197Conflicting interpretationssingle nucleotide variantJoubert syndrome 7|RPGRIP1L-Related Disorders|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs121918203Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 5|Meckel syndrome, type 5|Joubert syndrome 7|COACH syndrome 1|RPGRIP1L-Related Disorders|Meckel-Gruber syndrome|Joubert syndrome|Joubert syndrome
  • rs138724933Conflicting interpretationssingle nucleotide variantJoubert syndrome 7|Meckel syndrome, type 5|Nephronophthisis 8|Meckel-Gruber syndrome|Joubert syndrome|Joubert syndrome
  • rs140067659Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 7|Nephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome
  • rs143863631Conflicting interpretationssingle nucleotide variantJoubert syndrome 7|Meckel syndrome, type 5|Nephronophthisis 8|Meckel syndrome, type 5|COACH syndrome 1|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs144313291Conflicting interpretationssingle nucleotide variantNephronophthisis 8|Joubert syndrome 7|Meckel syndrome, type 5|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs146197239Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Nephronophthisis 8|Joubert syndrome 7|Meckel syndrome, type 5|Joubert syndrome
  • rs568801926Conflicting interpretationssingle nucleotide variantNephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome 7|Meckel-Gruber syndrome|Joubert syndrome
  • rs775153934Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 5|Nephronophthisis 8|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs79524027Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 5|COACH syndrome 1|Joubert syndrome 7|Meckel-Gruber syndrome|Joubert syndrome
  • rs148773489Likely benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
  • rs121918198Pathogenicsingle nucleotide variantJoubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs121918204Pathogenicsingle nucleotide variantJoubert syndrome 7|Joubert syndrome 7|COACH syndrome 1|Meckel syndrome, type 5|Meckel-Gruber syndrome|Joubert syndrome|Joubert syndrome|Abnormality of prenatal development or birth
  • rs145665129Pathogenicsingle nucleotide variantCOACH syndrome 3|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs267607020Pathogenicsingle nucleotide variantCOACH syndrome 3|Joubert syndrome 7
  • rs137982921Uncertain significancesingle nucleotide variantNephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|COACH syndrome 1|Joubert syndrome 7|Meckel syndrome, type 5|Joubert syndrome
  • rs151174849Uncertain significancesingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|COACH syndrome 1|Joubert syndrome
  • rs151212590Uncertain significancesingle nucleotide variantJoubert syndrome 7|Nephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome|Meckel-Gruber syndrome|COACH syndrome 1|Meckel syndrome, type 5|Joubert syndrome 7|Joubert syndrome

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.