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Links from MedGen

Items: 1 to 100 of 1056

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSC2
(A484T +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(Q476P +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(G870D +1 more)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(D682V +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2, DSCAS
(T21I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(T631K +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(P435L +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(R170K +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(P442A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(P69T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(A45fs)
Deletion
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GPathogenic
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(V182I +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(L549I +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(S359I +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(A699E +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2, DSCAS
(M1R)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(M310T +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2, DSCAS
(P6S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(V52I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(P449A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(E365D +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(H803P +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(T376S +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(L229fs +1 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 11
GPathogenic
DSC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(E427G +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(G703D +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(C626* +1 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 11
GPathogenic
DSC2
(V276A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(I342N +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(K134R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(S283P +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(N296T +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(K580E +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(L43P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(E61K +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(F712fs +1 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 11
GPathogenic
DSC2
Deletion
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(Q287R +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(Q592* +1 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 11
GPathogenic
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(A61V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(V438A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(T396A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(D239V +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2, DSCAS
(R16G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(M276V +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Duplication
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GBenign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(T640A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(G34A +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(Y350H +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(Y503N +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(C198F +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(G77S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
GBenign
DSC2
(G737E +1 more)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(V369I +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
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