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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(W2118fs +2 more)
Duplication
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
GLikely pathogenic
DSP
(Q1252* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q2093fs +2 more)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
DSP
Deletion
(splice acceptor variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
(E1911* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(C2213fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic/Likely pathogenic
DSP
(S1995fs +2 more)
Duplication
(frameshift variant)
Cardiovascular phenotype
GLikely pathogenic
DSP
Deletion
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1944* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(S1807* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GPathogenic/Likely pathogenic
DSP
(Q1179*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
DSP
(R1015fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q595*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
DSP
(M2241V +2 more)
Single nucleotide variant
(missense variant)
Woolly hair-skin fragility syndrome
+7 more
GConflicting classifications of pathogenicity
DSP
(E1952fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(K1996fs +2 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic
DSP
(G1813fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Y1891fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DSP
(S1569fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GPathogenic/Likely pathogenic
DSP
(E1776fs)
Microsatellite
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
DSP, DSP-AS1
(E21K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSP
(R1045*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
DSP
(L1554fs +2 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DSP
(R1113*)
Single nucleotide variant
(nonsense)
DSP-related disorder
+6 more
GPathogenic/Likely pathogenic
DSP
(Q2131fs +2 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DSP
(K2094fs +2 more)
Deletion
(frameshift variant)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
+2 more
GPathogenic
DSP
(Q625*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
DSP
(E2728fs +2 more)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E310fs)
Duplication
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GPathogenic/Likely pathogenic
DSP
(R2284* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
DSP
(F1817fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
DSP
(E290K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DSP
(R1934* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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