DSP Chromosome 6

Desmoplakin
1313 variants 1313 Health Risk

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What This Gene Does
This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000096696
Associated Conditions (65)
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
Cardiomyopathy
dilated
with wooly hair
keratoderma
and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Keratosis palmoplantaris striata 2
Primary familial hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Long QT syndrome
DSP-related disorder
Right ventricular cardiomyopathy
Wolff-Parkinson-White pattern
Familial restrictive cardiomyopathy
Primary dilated cardiomyopathy
+45 more conditions
Key Variants
RS1008407158
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1019692996
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1028793473
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
Health Risk
RS1033990351
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
Health Risk
RS1037212969
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1040120840
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1040353645
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1041054817
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1043978096
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1044309736
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1044634464
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1050258732
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Health Risk
All Variants (1313)
RSID Category Clinical Significance Conditions
RS1454368792 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS145650440 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS145796901 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS1458557680 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS145933612 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS1461028383 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS146617683 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Palmoplantar blistering, Skin fragility with non-scarring blistering
RS146642551 Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS147000526 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS147315869 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1473162721 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1473818298 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS147415451 Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS147484870 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS147801650 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS147909031 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Cardiomyopathy, 6 conditions
RS148041814 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS148095061 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS148147581 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS148478829 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS148550678 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, 6 conditions
RS148868379 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS149070106 Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS149123428 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS149513743 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Woolly hair-skin fragility syndrome
RS149773722 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS149827779 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS149929637 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS150339369 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS150422458 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS151049942 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS151115778 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1S, Arrhythmogenic right ventricular dysplasia 8
RS151153655 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS151309106 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554106830 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS1554107526 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS1554109247 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554109285 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1554109307 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561690890 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, 6 conditions
RS1561693806 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561703628 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS1561706189 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1581813359 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1581825892 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS17133512 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1757998776 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1758908162 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS1758956235 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759007844 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
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