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Links from MedGen

Items: 1 to 100 of 1189

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG2
(R146C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(A1054P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(L831P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, LOC130062340
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely pathogenic
DSG2
Deletion
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, LOC130062340
Deletion
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(C599F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(K338R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(E785K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(K692T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(L58F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, LOC130062340
(P5A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(T741I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(Q328P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Deletion
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(D509E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Duplication
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(W544G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(V590I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(D475Y)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(E989Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(I293V)
Inversion
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(V377I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(P970A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(V515F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(E1020D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Microsatellite
(inframe_insertion)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, LOC130062340
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(Q1006H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(V163A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(Q1042fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, LOC130062340
(S4fs)
Insertion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
GPathogenic
DSG2
(E169*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 10
GPathogenic
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(K84R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Deletion
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(T1005P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(Q285*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 10
GPathogenic
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(V265D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(I52F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(S911P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(E79K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(R1072*)
Duplication
(nonsense)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(I410T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(S972P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSG2
(M280V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, LOC130062340
(L11V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(A758T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(D154E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(S197C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(S944C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Duplication
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(N774fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
GPathogenic
DSG2
(L117I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2, DSG2-AS1
(N880del)
Deletion
(inframe_deletion)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(S167fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
GPathogenic
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(G109R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(E601fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
GPathogenic
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(D154E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(S551G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(P978R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
GLikely benign
DSG2
(P497A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2
(K72E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
DSG2, DSG2-AS1
(M946L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
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