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Links from MedGen

Items: 1 to 100 of 549

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(E795Q)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSP, DSP-AS1
(S22C)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
PKP2
(N585fs +1 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
DSP
Deletion
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
DSP
(R265fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
DSP
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
TMEM43
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
JUP
(E470K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
JUP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
TGFB3
(P285Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
TGFB3
(R266C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSP
(R1795fs +2 more)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
RYR2
(R4665K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(H3665Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
RYR2
(P3663S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GUncertain significance
RYR2
(S2797N)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(S2683L)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
RYR2
(M1487L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(F1763C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(N2365D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(G640fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
RYR2
(T2105I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(Y2620C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(D1623Y)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(Q323fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
PKP2
(K455E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSP
(L1764P)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSP
(G1457V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSP
(N543H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
(T168fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
(T108S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
(T713K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
RYR2
(K4674E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
PKP2
(S313fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
PKP2
(R287fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
PKP2
(H635fs +1 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
DSC2
(S526*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
DSG2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 10
+1 more
GConflicting classifications of pathogenicity
DSC2
(D238G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GUncertain significance
DSG2
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
PKP2
(R635Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
PKP2
(L422fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
DSP
(Q1227*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
RYR2
(C2461Y)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSG2
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(R529fs +1 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
TTN
(K12312N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
MYH6
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
PTPN11
(C573R +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
DSG2
(V295fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 10
+2 more
GPathogenic/Likely pathogenic
MYH6
(G986E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CACNB2
(C140Y +4 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 4
+3 more
GUncertain significance
DSG2, DSG2-AS1
(I851fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
DSG2, DSG2-AS1
(S887G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
TTN, TTN-AS1
(G24529S +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+2 more
GConflicting classifications of pathogenicity
DSP
(A1145fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GLikely pathogenic
DSP
(Q1467fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PKP2
(H218fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
DSP
(Q588*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GPathogenic/Likely pathogenic
RYR2
(E4081K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DSP
(Q175*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
MYPN
(P47L)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1KK
+3 more
GConflicting classifications of pathogenicity
DMD
(K297N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DES
(Y122C)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GConflicting classifications of pathogenicity
TRPM4
(A380V +2 more)
Single nucleotide variant
(missense variant +2 more)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GUncertain significance
LAMA4
(G1529V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSP
Deletion
(inframe_deletion)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GUncertain significance
PKP2
(G602* +1 more)
Duplication
(nonsense)
Cardiomyopathy
+1 more
GLikely pathogenic
PKP2
Deletion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GPathogenic
RBM20
(A605V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ACTN2
(E829* +1 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DES
(Q329*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RYR2
(E336G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
RYR2
(V1769A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
TGFB3
(Y306H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PKP2
(Q323fs)
Indel
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 9
+2 more
GPathogenic/Likely pathogenic
PKP2
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DSP
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
DSP
(Q307*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic/Likely pathogenic
PKP2
(A326fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DSP
(E1159fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GPathogenic
DSP
(Q76*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GLikely pathogenic
PKP2
Deletion
(splice donor variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DSC2
(A164T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSG2-AS1, DSG2
(R824H)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 10
+4 more
GConflicting classifications of pathogenicity
DSC2
(R199C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RYR2
(N4008S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
(V3990I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
PKP2
(L614fs +1 more)
Deletion
(frameshift variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+1 more
GLikely pathogenic
DSP
(Q1667*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
SGCA
(D20N)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
RBM20
(R791W)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TTN
(P13019L +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
DSG2
(R292C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSP
(T1436fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSP
(R1045*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
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