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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)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(T721K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+4 more
GUncertain significance
DSC2
(Q620*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic
DSC2
(T268A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSC2
(P223S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DSC2
(G220R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSC2
Single nucleotide variant
(splice acceptor variant)
Cardiomyopathy
+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)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GConflicting classifications of pathogenicity
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