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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130062340, DSG2
(L15Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSG2
(R46Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
DSG2
(W51R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2
(R146L)
Single nucleotide variant
(missense variant)
Cardiac arrest
+5 more
GConflicting classifications of pathogenicity
DSG2
(N182S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DSG2
(V239A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSG2
(D435N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSG2
(P629S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DSG2, DSG2-AS1
(V920G)
Single nucleotide variant
(missense variant)
DSG2-related condition
+6 more
GBenign/Likely benign
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