CDH2 Chromosome 18
Cadherin 2
Upload your DNA to see your personal genotypes for variants in CDH2.
What This Gene Does
This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"CD molecules|Type I classical cadherins"
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000170558
Associated Conditions (18)
Inborn genetic diseases
Arrhythmogenic right ventricular dysplasia
familial
14
CDH2-related disorder
Arrhythmogenic right ventricular cardiomyopathy
Auditory neuropathy
Cerebral arteriovenous malformation
Axon pathfinding
cardiac
ocular and genital defects
Corpus callosum
agenesis of
Syndromic neurodevelopmental disorder
Attention deficit-hyperactivity disorder 8
Agenesis of corpus callosum
ocular
and genital syndrome
Key Variants
RS113785794
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1284853215
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia, familial, 14
Health Risk
RS1293733346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142861371
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia, familial, 14
Health Risk
RS146386375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146668864
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149610799
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151218256
Conflicting classifications of pathogenicity
Inborn genetic diseases, CDH2-related disorder, Inborn genetic diseases
Health Risk
RS188251941
Conflicting classifications of pathogenicity
Health Risk
RS188546474
Conflicting classifications of pathogenicity
Inborn genetic diseases, Arrhythmogenic right ventricular cardiomyopathy, Inborn genetic diseases
Health Risk
RS1909497237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200230960
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113785794 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1284853215 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia, familial, 14 |
| RS1293733346 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142861371 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia, familial, 14 |
| RS146386375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146668864 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS149610799 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151218256 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CDH2-related disorder, Inborn genetic diseases |
| RS188251941 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188546474 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Arrhythmogenic right ventricular cardiomyopathy, Inborn genetic diseases |
| RS1909497237 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200230960 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200933425 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia, familial, 14 |
| RS201148355 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Auditory neuropathy, Inborn genetic diseases |
| RS201543789 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201866479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202032913 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202207758 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2510790722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373060189 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS568089577 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia, familial, 14 |
| RS751271722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753064228 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753933914 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759639016 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555630396 | Health Risk | Likely pathogenic | Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |
| RS1599017933 | Health Risk | Likely pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS2510778223 | Health Risk | Likely pathogenic | — |
| RS2510798953 | Health Risk | Likely pathogenic | — |
| RS2510816952 | Health Risk | Likely pathogenic | Attention deficit-hyperactivity disorder 8, Attention deficit-hyperactivity disorder 8 |
| RS2510818669 | Health Risk | Likely pathogenic | — |
| RS777374626 | Health Risk | Likely pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS199984052 | Health Risk | Pathogenic | CDH2-related disorder, Axon pathfinding, cardiac |
| RS2013111940 | Health Risk | Pathogenic | Agenesis of corpus callosum, cardiac, ocular |
| RS201775968 | Health Risk | Pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS2510799501 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia, familial, 14 |
| RS754880999 | Health Risk | Pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS965753331 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia, familial, 14 |
| RS1598982483 | Health Risk | Pathogenic/Likely pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS1598982488 | Health Risk | Pathogenic/Likely pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS1599010918 | Health Risk | Pathogenic/Likely pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS1599011050 | Health Risk | Pathogenic/Likely pathogenic | Axon pathfinding, cardiac, ocular and genital defects |
| RS2013040501 | Health Risk | Pathogenic/Likely pathogenic | Agenesis of corpus callosum, cardiac, ocular |
| RS2143975765 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia, familial, 14 |