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Links from MedGen

Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG2, DSG2-AS1
(G997fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GPathogenic/Likely pathogenic
DSG2
(A241T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GUncertain significance
DSG2, LOC130062340
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(D794fs)
Duplication
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GPathogenic/Likely pathogenic
DSG2
(K338M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSG2, LOC130062340
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GBenign/Likely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GLikely benign
DSG2-AS1, DSG2
(T938N)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2
(R119*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GLikely pathogenic
DSG2
(H604R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+2 more
GUncertain significance
DSG2, DSG2-AS1
(G842D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1BB
+4 more
GUncertain significance
DSG2, DSG2-AS1
(H1095N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DSG2
(F388C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
(P923R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
DSG2
(T650I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
(I992M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSG2
(I16T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSG2, DSG2-AS1
(T881I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
DSG2
(H43R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSG2
(E156K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GUncertain significance
DSG2
(A78E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(G679S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSG2
(N305S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSG2, DSG2-AS1
(G983D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, LOC130062340
Single nucleotide variant
(5 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2
(Y607C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GUncertain significance
DSG2, DSG2-AS1
(L807P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2
(K369M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
DSG2
(V295fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1BB
+2 more
GPathogenic/Likely pathogenic
DSG2
(T480I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2
(H41L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GUncertain significance
DSG2
Deletion
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GLikely pathogenic
DSG2, DSG2-AS1
(M863I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
DSG2, DSG2-AS1
(E909D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
DSG2
(L431S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
DSG2
(F99Y)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(T695M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2
(L171fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1BB
+1 more
GPathogenic/Likely pathogenic
DSG2
(L610fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
DSG2, DSG2-AS1
(A753fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GPathogenic/Likely pathogenic
DSG2, DSG2-AS1
(L836V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DSG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GBenign/Likely benign
DSG2
(L307V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GUncertain significance
DSG2
(D326V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GLikely benign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+6 more
GLikely benign
DSG2-AS1, DSG2
(R824H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 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
(V985I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GUncertain significance
DSG2
(P205S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSG2
(T466I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2
(D535E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GUncertain significance
DSG2, DSG2-AS1
(V986fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(R1049fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2
(H41N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GLikely benign
DSG2
(T176I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSG2, DSG2-AS1
(F776L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+7 more
GConflicting classifications of pathogenicity
DSG2
(S303F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DSG2
(D419V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2-AS1, DSG2
(R915T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSG2
(G166fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GPathogenic
DSG2, DSG2-AS1
(K901R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSG2, DSG2-AS1
(T859A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSG2
(I70V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
DSG2
(F321I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2
(D509N)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(E1020fs)
Microsatellite
(frameshift variant)
Dilated cardiomyopathy 1BB
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(S884del)
Microsatellite
(inframe_deletion)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
(T1056I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
DSG2
(D519Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GUncertain significance
DSG2, DSG2-AS1
(A917V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GLikely benign
DSG2, DSG2-AS1
(G1089V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
DSG2
(I487T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
DSG2
(E144K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
DSG2
(Y198C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GUncertain significance
DSG2
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
+2 more
GPathogenic/Likely pathogenic
DSG2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1BB
+2 more
GLikely benign
DSG2
(N33T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+3 more
GUncertain significance
DSG2, DSG2-AS1
Indel
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(S699I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T1070M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GBenign/Likely benign
DSG2, DSG2-AS1
(G678A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(H790Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
+7 more
GConflicting classifications of pathogenicity
DSG2-AS1, DSG2
(V987A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DSG2, DSG2-AS1
(E769K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T751I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSG2
(N493S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GConflicting classifications of pathogenicity
DSG2
(K346del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GUncertain significance
DSG2
(I269T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+5 more
GConflicting classifications of pathogenicity
DSG2
(G638R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSG2
(R292H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+6 more
GUncertain significance
DSG2
(S194L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSG2
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GConflicting classifications of pathogenicity
DSG2
(V158G)
Single nucleotide variant
(missense variant)
not specified
+8 more
GBenign/Likely benign
DSG2, DSG2-AS1
(T1099A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T1047R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
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