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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DSG2, DSG2-AS1
(H721R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(E769K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSG2-AS1, DSG2
(S1059T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
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