DSG2 Chromosome 18

Desmoglein 2
303 variants 303 Health Risk

Upload your DNA to see your personal genotypes for variants in DSG2.

What This Gene Does
This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000046604
Associated Conditions (21)
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 10
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy 1BB
Cardiac arrest
Hypertrophic cardiomyopathy
DSG2-related disorder
Primary familial hypertrophic cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Long QT syndrome
Primary dilated cardiomyopathy
Thyroid cancer
nonmedullary
1
Conduction disorder of the heart
Familial cancer of breast
Left ventricular noncompaction cardiomyopathy
Intellectual disability
Sudden cardiac death
+1 more conditions
Key Variants
RS1012160082
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1021457619
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
Health Risk
RS1024370144
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1045381049
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1057520867
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1064794709
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
Health Risk
RS113451409
Conflicting classifications of pathogenicity
Cardiac arrest, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS114544564
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Health Risk
RS1165139589
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1175183896
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Health Risk
RS1179912383
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1191142951
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, DSG2-related disorder
Health Risk
All Variants (303)
RSID Category Clinical Significance Conditions
RS745457570 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS779360113 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1342580910 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1375012922 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1452179158 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS200201181 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2073125384 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2073148989 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144317658 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144317934 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144318119 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144322985 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144323019 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144346522 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144359029 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510903631 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510910826 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510910881 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911012 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911089 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510911160 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911170 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911656 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS2510912913 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510917365 Health Risk Pathogenic —
RS2510918902 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510920014 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510920888 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS750176752 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS754133577 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS759944835 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS794728083 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS794728092 Health Risk Pathogenic —
RS794728098 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1039633976 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Dilated cardiomyopathy 1BB
RS1064793983 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1187924885 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS121913006 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS121913008 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS1252426323 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
RS1555627108 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS1555671201 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1568105371 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
RS2073149649 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510917341 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS397516712 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS546127303 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS553299589 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS752522753 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Cardiomyopathy
RS758282201 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
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