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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSC2, DSCAS
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GUncertain significance
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GUncertain significance
DSCAS, DSC2
(T21N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+3 more
GLikely benign
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSCAS, DSC2
(R16Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
(R16W)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+1 more
GUncertain significance
DSC2, DSCAS
Indel
(missense variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
DSCAS, DSC2
(G12R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
(G12R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
DSC2, DSCAS
(N11S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign
DSC2, DSCAS
(W10C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DSC2, DSCAS
(W10R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GUncertain significance
DSC2, DSCAS
(S9C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
DSC2, DSCAS
(G8V)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
(S7F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
DSC2, DSCAS
(R5L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GUncertain significance
DSC2, DSCAS
(R5G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
DSC2, DSCAS
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
DSC2, DSCAS
(E2K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
(M1V)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSCAS, DSC2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
DSC2, DSCAS
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
DSC2, DSCAS
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GLikely benign
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