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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG2, DSG2-AS1
(E693D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DSG2, DSG2-AS1
(Q731P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(A738T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
(L836V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(P857S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DSG2, DSG2-AS1
(I934L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSG2, DSG2-AS1
(T1032I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(R1049fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
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