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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSC2
(A866V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(E785K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSC2
(T721K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
DSC2
(Q620*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic
DSC2
(T268A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSC2
(P223S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSC2
(G220R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GUncertain significance
DSC2
Single nucleotide variant
(splice acceptor variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GConflicting classifications of pathogenicity
DSC2
(I96L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2, DSCAS
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
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