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Items: 1 to 100 of 697

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(G20949* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GLikely pathogenic
DSP
(I1004fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
GLikely pathogenic
DSP
(Q1707*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
GPathogenic
DSP
(S176fs)
Microsatellite
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
GLikely pathogenic
DSP
(L463fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely pathogenic
DSP
(L1756fs)
Duplication
(intron variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(M83fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1651*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(L1007fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(D480fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E348*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(M924fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(L1769fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(W233*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1418*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(S1349fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R771fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1286*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1488*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R1537fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1635fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R1628fs)
Indel
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E426*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(A311fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R561fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(C482fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(V508fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(S843*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Y846*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(C191fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic
DSP
(W901*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Deletion
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(N1712fs)
Insertion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q841*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(K1022fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R1464fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(K1627fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1276*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q277*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q139fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely pathogenic
DSP-AS1, DSP
(Y28*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(E481*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(M1719fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(W194*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(L1177fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(T760fs)
Duplication
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(G98*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(L975fs)
Microsatellite
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Y403*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
Single nucleotide variant
(splice donor variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
(D1471fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(A1584fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(E1181*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(K1310*)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
+2 more
GPathogenic
DSP
(T760fs)
Insertion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q1071*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
DSP
(R1042fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(S333fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(L723fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(M729fs)
Microsatellite
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(N928fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(K1626fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic
DSP
(E660fs)
Microsatellite
(frameshift variant)
Cardiomyopathy
+2 more
GPathogenic/Likely pathogenic
DSP
Single nucleotide variant
(splice donor variant)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
+2 more
GLikely pathogenic
MYBPC3
(I659M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
DSP
(R1173fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic
LOC130004109, VCL
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
DSP
(K1410fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic/Likely pathogenic
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(E1068fs)
Microsatellite
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(T570fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(R270*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(N690fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q1677fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(I1372fs)
Insertion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(E374fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic
RBM20
(E913V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely pathogenic
DSP
(Q1707fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q873fs)
Duplication
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic
DSP
(Q417*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(W537*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q743*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Deletion
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic
DSP
(R129fs)
Duplication
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Single nucleotide variant
(splice donor variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
(K1287fs)
Insertion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(D728fs)
Duplication
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(L1709fs)
Microsatellite
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic/Likely pathogenic
DSP
(Q844*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(K949fs)
Indel
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(W537fs)
Microsatellite
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(R1411fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E1716fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E1652fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic/Likely pathogenic
DSP
(E973*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(K1498fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
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