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Gene entry

CC2D2A

coiled-coil and C2 domain containing 2A

Chromosome
4
Cytoband
4p15.32
Variants (rsID)
59

CC2D2A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p15.32). Its official name is “coiled-coil and C2 domain containing 2A”. The reference table lists 59 variants (rsID) for this gene.

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Clinically classified variants

40 reference-table entries with clinical significance.

  • rs10000250Benignsingle nucleotide variantJoubert syndrome 9|Meckel syndrome, type 6
  • rs114335547Benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
  • rs13116304Benignsingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9
  • rs16892095Benignsingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome
  • rs1861050Benignsingle nucleotide variantJoubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 1
  • rs2286976Benignsingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome
  • rs116198081Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|CC2D2A-Related Disorders|Joubert syndrome 9|Meckel-Gruber syndrome|Joubert syndrome
  • rs117667651Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Joubert syndrome 9|Meckel syndrome, type 6
  • rs118204051Conflicting interpretationssingle nucleotide variantJoubert syndrome 9|COACH syndrome 1|Meckel-Gruber syndrome|Joubert syndrome
  • rs137919504Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome
  • rs143947747Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome|Microcephaly
  • rs144439937Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Joubert syndrome 9|Meckel syndrome, type 6
  • rs146843542Conflicting interpretationssingle nucleotide variantJoubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome
  • rs150093365Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|COACH syndrome 1|Joubert syndrome|Meckel-Gruber syndrome
  • rs16892134Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome
  • rs183968785Conflicting interpretationssingle nucleotide variantJoubert syndrome 9|Meckel syndrome, type 6
  • rs184351317Conflicting interpretationssingle nucleotide variantJoubert syndrome 9|CC2D2A-Related Disorders|Meckel syndrome, type 6|Meckel-Gruber syndrome|Joubert syndrome
  • rs186264635Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 6|Joubert syndrome 9
  • rs186486235Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Joubert syndrome 9|Meckel syndrome, type 6
  • rs187003641Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|COACH syndrome 1|Joubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 6|Joubert syndrome 9
  • rs190694237Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Meckel-Gruber syndrome|Joubert syndrome
  • rs199861496Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome
  • rs200645738Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
  • rs201502401Conflicting interpretationssingle nucleotide variantJoubert syndrome 9|Meckel-Gruber syndrome|Joubert syndrome|Joubert syndrome|Meckel-Gruber syndrome|CC2D2A-Related Disorders|Inborn genetic diseases|COACH syndrome 1|Neurodevelopmental disorder
  • rs202150325Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|Meckel-Gruber syndrome|Joubert syndrome
  • rs267606709Conflicting interpretationssingle nucleotide variantCOACH syndrome 2|Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome
  • rs372671421Conflicting interpretationssingle nucleotide variantCC2D2A-Related Disorders|Joubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome
  • rs376746356Conflicting interpretationssingle nucleotide variantCC2D2A-Related Disorders|Meckel syndrome, type 6|Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome
  • rs386833752Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome 9|Polydactyly
  • rs61740537Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
  • rs753770061Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 6|CC2D2A-Related Disorders|Joubert syndrome 9|Meckel-Gruber syndrome|Joubert syndrome
  • rs766203266Conflicting interpretationssingle nucleotide variantCC2D2A-Related Disorders|Joubert syndrome 9|Meckel syndrome, type 6|Meckel-Gruber syndrome|Joubert syndrome
  • rs863225181Conflicting interpretationssingle nucleotide variantJoubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome
  • rs368720062Likely pathogenicsingle nucleotide variantMeckel-Gruber syndrome
  • rs386833755Likely pathogenicsingle nucleotide variantMeckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome
  • rs118204052Pathogenicsingle nucleotide variantJoubert syndrome 9|COACH syndrome 2
  • rs118204053Pathogenicsingle nucleotide variantJoubert syndrome 9|Inborn genetic diseases
  • rs200407856Pathogenicsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 9
  • rs781252161Pathogenicsingle nucleotide variantJoubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 6|COACH syndrome 1|Joubert syndrome 9|Meckel syndrome, type 6|COACH syndrome 2|Joubert syndrome 9
  • rs148194457Uncertain significancesingle nucleotide variantJoubert syndrome|Meckel-Gruber 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.