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Items: 1 to 100 of 586

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSC2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
Single nucleotide variant
(stop lost +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(C898*)
Single nucleotide variant
(nonsense +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(C898R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
DSC2
(A897fs)
Duplication
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
+6 more
GBenign/Likely benign
DSC2
(A895G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(K890R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GLikely benign
DSC2
(E882K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
DSC2
(G880R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(E878del)
Microsatellite
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(D879G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+6 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(synonymous variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
+1 more
GLikely benign
DSC2
(Q876R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(Q876E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GUncertain significance
DSC2
(R875Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
DSC2
(R875*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+5 more
GUncertain significance
DSC2
(E874G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(E874K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
+4 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GLikely benign
DSC2
(G870C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(S868F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+5 more
GUncertain significance
DSC2
(A866V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(A866G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GLikely benign
DSC2
(V722M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(S864L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
(G863fs)
Duplication
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(G863R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSC2
(G863fs)
Microsatellite
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(Y859*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(Y859C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GLikely benign
DSC2
(Y857C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(Y857H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GLikely benign
DSC2
(D852fs)
Deletion
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(A850fs)
Indel
(3 prime UTR variant +1 more)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSC2
(H849P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
(D844H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
(V838M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
(I845F)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
(H842R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DSC2
(G841R)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
(R833H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DSC2
(R833C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+4 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GConflicting classifications of pathogenicity
DSC2
(S824L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
(Y680fs +1 more)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
DSC2
(Y821*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GConflicting classifications of pathogenicity
DSC2
(N818D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
DSC2
(T814M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+4 more
GConflicting classifications of pathogenicity
DSC2
(H813P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
(D807H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
DSC2
(G801D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(A800S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
DSC2
(R798L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSC2
(R798Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
DSC2
(R798W)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GLikely benign
DSC2
(E795V)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+1 more
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GLikely benign
DSC2
(S794L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
DSC2
(Q792*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GUncertain significance
DSC2
(H791N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
DSC2
(G790del)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSC2
(G790E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSC2
(G790R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(G789E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSC2
(K788T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(V787M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(M786T)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+2 more
GUncertain significance
DSC2
(E785G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GUncertain significance
DSC2
(E785K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GLikely benign
DSC2
(E782K)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+3 more
GUncertain significance
DSC2
(Q781R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(G779R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSC2
(I776M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
DSC2
(I776V)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GBenign
DSC2
(G773V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
(G773A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DSC2
(V772M)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+4 more
GConflicting classifications of pathogenicity
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