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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG2, DSG2-AS1
(G678A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(G679S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
(T695M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2, DSG2-AS1
(S699I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T751I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(A753fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GPathogenic/Likely pathogenic
DSG2, DSG2-AS1
(E769K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(F776L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1BB
+5 more
GLikely benign
DSG2, DSG2-AS1
(H790Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(D794fs)
Duplication
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GPathogenic/Likely pathogenic
DSG2, DSG2-AS1
(L807P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2-AS1, DSG2
(R824H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(L836V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(A837D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
DSG2, DSG2-AS1
(G842D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2, DSG2-AS1
(T859A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSG2, DSG2-AS1
(M863L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
DSG2, DSG2-AS1
(M863I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2, DSG2-AS1
(T881I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
DSG2, DSG2-AS1
(S884del)
Microsatellite
(inframe_deletion)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(S883P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GBenign
DSG2, DSG2-AS1
(K901R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSG2, DSG2-AS1
(E909D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
DSG2-AS1, DSG2
(R915T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(A917V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GLikely benign
DSG2, DSG2-AS1
(P923R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
DSG2-AS1, DSG2
(T938N)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(G983D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(V985I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GUncertain significance
DSG2-AS1, DSG2
(V987A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DSG2, DSG2-AS1
(I992M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSG2, DSG2-AS1
(S1021fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GUncertain significance
DSG2, DSG2-AS1
(T1047R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2, DSG2-AS1
(R1049fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(T1056I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
DSG2-AS1, DSG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
DSG2, DSG2-AS1
(T1070M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GBenign/Likely benign
DSG2, DSG2-AS1
(G1089V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
DSG2, DSG2-AS1
Indel
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(H1095N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T1099A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
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