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
RS781415014 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS781532110 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy
RS781744343 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS786205361 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Cardiomyopathy
RS79068489 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS794728078 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS794728081 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS794728084 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS794728086 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS794728091 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS794728093 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Cardiovascular phenotype
RS794728094 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS794728097 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS869025388 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS876657791 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, DSG2-related disorder
RS876657792 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS943749481 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS948681475 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS979865463 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS1064793103 Health Risk Likely pathogenic —
RS121913011 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1251838628 Health Risk Likely pathogenic —
RS1257877047 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
RS1382430464 Health Risk Likely pathogenic Thyroid cancer, nonmedullary, 1
RS1472037685 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1555671335 Health Risk Likely pathogenic —
RS1555671441 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1568098570 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Cardiomyopathy
RS1598810829 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
RS1598811348 Health Risk Likely pathogenic —
RS2073222422 Health Risk Likely pathogenic Intellectual disability, Arrhythmogenic right ventricular dysplasia 10, Intellectual disability
RS2144316016 Health Risk Likely pathogenic —
RS2144317638 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144322548 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144332473 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144332631 Health Risk Likely pathogenic —
RS2144339598 Health Risk Likely pathogenic —
RS2144339967 Health Risk Likely pathogenic —
RS2510903672 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510910367 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911038 Health Risk Likely pathogenic —
RS2510912814 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510917290 Health Risk Likely pathogenic —
RS2510920042 Health Risk Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS2510920856 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510922441 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2510922661 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS369489095 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Cardiovascular phenotype
RS397516702 Health Risk Likely pathogenic —
RS565904909 Health Risk Likely pathogenic Sudden cardiac death, Sudden cardiac death
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