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Links from MedGen

Items: 1 to 100 of 428

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GLikely benign
DSP
(Y2720F +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(V495L)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GUncertain significance
DSP
(R2231C +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GUncertain significance
DSP
(R243C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
DSP
(R232C)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(F856L)
Single nucleotide variant
(missense variant)
Lethal acantholytic epidermolysis bullosa
+5 more
GConflicting classifications of pathogenicity
DSP
(I958V)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(P988S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GUncertain significance
DSP
(D875N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
DSP
(R1634L)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GUncertain significance
DSP
(A718V)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GUncertain significance
DSP
(A1001S)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
DSP-AS1, DSP
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GLikely pathogenic
DSP
(S2257T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(S1520G)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GConflicting classifications of pathogenicity
DSP
(S987T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DSP
(E1319K +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GUncertain significance
DSP
(Q2125H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(V1402E +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GUncertain significance
DSP
(K427E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GConflicting classifications of pathogenicity
DSP
(R103Q)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
DSP
(M2241V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSP
(A247V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
DSP
(L2203F +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
DSP
(K1228N)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(G60S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GConflicting classifications of pathogenicity
DSP
(D1733N)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
(E2268D +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GConflicting classifications of pathogenicity
DSP
(Q216P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GUncertain significance
DSP
(T2657I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
DSP
(M1379T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GUncertain significance
DSP
(Q473R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GUncertain significance
DSP
(R1411S)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSP
(S1623P)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(F379I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GUncertain significance
DSP
(R1333H +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+9 more
GConflicting classifications of pathogenicity
DSP
(E1109K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(Y1717C +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(S2390C +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(E721K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GUncertain significance
DSP
(I1916V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GLikely benign
DSP, DSP-AS1
(G35A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GConflicting classifications of pathogenicity
DSP
(F2421L +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(I2150S +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GUncertain significance
DSP
(N1728D +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(N339S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GConflicting classifications of pathogenicity
DSP
(D1248N)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GLikely benign
DSP
(A1576T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GConflicting classifications of pathogenicity
DSP
(S1708F)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
(T969I)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GLikely benign
DSP
(L1007F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GUncertain significance
DSP
(T2152I +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GLikely benign
DSP
(I814T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSP
(S1361R)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSP
Duplication
(intron variant)
Cardiomyopathy
+6 more
GUncertain significance
DSP
(M1448I +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GUncertain significance
DSP
(S1588del)
Deletion
(inframe_deletion +1 more)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GLikely benign
DSP
(Y1560F +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GUncertain significance
DSP
(G229S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+3 more
GConflicting classifications of pathogenicity
DSP
(A240P)
Single nucleotide variant
(missense variant)
Lethal acantholytic epidermolysis bullosa
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+3 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GConflicting classifications of pathogenicity
DSP
(T1521A +2 more)
Single nucleotide variant
(missense variant)
Lethal acantholytic epidermolysis bullosa
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Woolly hair-skin fragility syndrome
+3 more
GConflicting classifications of pathogenicity
DSP
(L749P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GUncertain significance
DSP
(R105Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GConflicting classifications of pathogenicity
DSP, DSP-AS1
Single nucleotide variant
(5 prime UTR variant)
Lethal acantholytic epidermolysis bullosa
+5 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
(R907S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Woolly hair-skin fragility syndrome
+5 more
GConflicting classifications of pathogenicity
DSP, DSP-AS1
Single nucleotide variant
(5 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP, DSP-AS1
Single nucleotide variant
(5 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
(T861I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GConflicting classifications of pathogenicity
DSP
(Q1141H)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GUncertain significance
DSP
(I512V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(S176G)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GUncertain significance
DSP
(R1002P)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
(T2595A +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GUncertain significance
DSP
(L1600F +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GConflicting classifications of pathogenicity
DSP
(V1639G)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+6 more
GUncertain significance
DSP
(G2235S +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GUncertain significance
DSP
(N226S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
DSP
(R677K)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GConflicting classifications of pathogenicity
DSP
(N1215S)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GUncertain significance
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