U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1641

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(L237*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
RYR1
(R3366H +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(D460N +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(Q129* +1 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DSP
(L1037fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(P7fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(A217fs +1 more)
Insertion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(G5fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(Y444fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DSP
(T1264fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(A417S +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
(S185T +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(T350I +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(I624L +3 more)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(N274D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, LOC130062340
Deletion
(5 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
(K321E +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(S249G +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(F1022S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(L630V +5 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(P664A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(L826S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(E289fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(S22G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(S553G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
(Q504fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(T505S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
(T50R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(T719S +3 more)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
Duplication
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(D109A)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(L132I +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2, DSG2-AS1
(P947S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(S999W)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(A858V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(G439R +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(V314L +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(A558P +3 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(T545I +3 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(I537V +3 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(I13L)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
(N137I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(G707R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(A206D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2-AS1, DSG2
(P889Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(P391A +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(D96Y)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(L588F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(T650S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(S701T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(D342V +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(A309T +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(R171K +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
(K593R +3 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
(I568L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
(I85fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(G407E +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(V529A +3 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, LOC130062340
(P5S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(R142del +1 more)
Deletion
(inframe_deletion)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
Duplication
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(G315R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GUncertain significance
PKP2
(L30R)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(P994L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(F18C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(N283Y +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(T127R +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(V951L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(T747P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(N359I +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
PKP2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(D63G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(K378R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(K490N +2 more)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(R260M +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(Q507H +3 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(Q173H +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2, DSG2-AS1
(A750T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(V340G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSG2, DSG2-AS1
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
Format
Items per page
Sort by
Choose Destination