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Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG2, LOC130062340
Deletion
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
DSG2, LOC130062340
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
DSG2, LOC130062340
(L15Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSG2
(R46Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1BB
+5 more
GPathogenic/Likely pathogenic
DSG2
(V56M)
Single nucleotide variant
(missense variant)
DSG2-related disorder
+7 more
GConflicting classifications of pathogenicity
DSG2
(L58V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2
(P69T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSG2
(H74R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSG2
(Y89C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
DSG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
DSG2
(F99Y)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1BB
+3 more
GUncertain significance
DSG2
(A131T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2
(R146L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
+2 more
GPathogenic/Likely pathogenic
DSG2
Duplication
(intron variant)
Cardiomyopathy
+1 more
GBenign
DSG2
Deletion
(intron variant)
Cardiomyopathy
+1 more
GBenign
DSG2
Deletion
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GBenign
DSG2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
DSG2
(T226S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSG2
Deletion
(splice donor variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSG2
Deletion
(splice acceptor variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSG2
(R292H)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
DSG2
(K294E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
DSG2
(T335A)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSG2
(S351G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GBenign/Likely benign
DSG2
(I353T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSG2
(V392I)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
DSG2
(D435N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2
(Y459C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DSG2
(Q461E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSG2
(T466I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
DSG2
(N493S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2
(D494A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSG2
(T505A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSG2
(V515I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
DSG2
(F531C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSG2
(S553I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSG2
(L594P)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSG2
(C599R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
DSG2
(G638R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GBenign/Likely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(G678A)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
DSG2, DSG2-AS1
(E770K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(intron variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(A780V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2-AS1, DSG2
(Y783*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DSG2, DSG2-AS1
(E786D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(H790Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(E802G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
(G812S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(E820G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSG2, DSG2-AS1
(R824C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSG2-AS1, DSG2
(Q855K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
DSG2, DSG2-AS1
(K856N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GBenign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GBenign
DSG2, DSG2-AS1
(M863L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(S883P)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
DSG2, DSG2-AS1
(T903I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
DSG2, DSG2-AS1
(V920G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
DSG2, DSG2-AS1
(I962M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
DSG2, DSG2-AS1
(V985I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSG2, DSG2-AS1
(Y1013fs)
Insertion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
DSG2, DSG2-AS1
(Y1013*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(V1014I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(G1028S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
DSG2, DSG2-AS1
(A1034V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GBenign/Likely benign
DSG2, DSG2-AS1
(T1056I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GUncertain significance
DSG2-AS1, DSG2
(S1059T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T1070M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
DSG2, DSG2-AS1
(T1075M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GBenign/Likely benign
DSG2-AS1, DSG2
(G1089D)
Single nucleotide variant
(missense variant)
DSG2-related disorder
+5 more
GBenign/Likely benign
DSG2, DSG2-AS1
(G1089V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSG2, DSG2-AS1
Indel
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T1099A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
Single nucleotide variant
(3 prime UTR variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSG2
Deletion
Cardiomyopathy
GUncertain significance
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