CNTN2 Chromosome 1
Contactin 2
Upload your DNA to see your personal genotypes for variants in CNTN2.
What This Gene Does
This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"I-set domain containing|Contactins"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000184144
Associated Conditions (4)
Epilepsy
familial adult myoclonic
5
CNTN2-related disorder
Key Variants
RS114903768
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS116647440
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS139732336
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS139732381
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS142502980
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS145352110
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS147693556
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS149564430
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS2229867
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS369729930
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS371816961
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
RS376343938
Conflicting classifications of pathogenicity
Epilepsy, familial adult myoclonic, 5
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114903768 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS116647440 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS139732336 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS139732381 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS142502980 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS145352110 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS147693556 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS149564430 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS2229867 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS369729930 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS371816961 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS376343938 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS545256650 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS556646437 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS558282228 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS747208674 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS752262787 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS764275222 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS773175563 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial adult myoclonic, 5 |
| RS113709347 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS1196223064 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS1202358073 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS1553345874 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2151198133 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526391548 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526413187 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526418181 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS763392794 | Health Risk | Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS1422381117 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS1446948758 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS1553347743 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2151192841 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2151200083 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2151200415 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526345528 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526345779 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526381814 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526392181 | Health Risk | Pathogenic | — |
| RS2526400673 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526400748 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS2526429943 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS398122387 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS531184069 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS537026414 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS768608238 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS867618155 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS948007639 | Health Risk | Pathogenic | Epilepsy, familial adult myoclonic, 5 |
| RS779892361 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial adult myoclonic, 5 |