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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP, DSP-AS1
(R19C)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GConflicting classifications of pathogenicity
DSP
(V89M)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+10 more
GConflicting classifications of pathogenicity
DSP
(E109Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(R129Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DSP
(R150Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GConflicting classifications of pathogenicity
DSP
(I305F)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
DSP
(R315fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
DSP
Single nucleotide variant
(splice donor variant)
Primary dilated cardiomyopathy
GLikely pathogenic
DSP
(R425*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
DSP
(V439I)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
DSP
(P450A)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
DSP
(P515L)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DSP
(N593S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GBenign/Likely benign
DSP
(T634R)
Single nucleotide variant
(missense variant)
Ventricular tachycardia
+4 more
GUncertain significance
DSP
(E683K)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GConflicting classifications of pathogenicity
DSP
Microsatellite
(genic downstream transcript variant)
not provided
+2 more
GPathogenic
DSP
(E754K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSP
(L811P)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+7 more
GUncertain significance
DSP
Duplication
(inframe_insertion)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GUncertain significance
DSP
(G857S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GLikely benign
DSP
(R866H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DSP
(E882K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GConflicting classifications of pathogenicity
DSP
(Y895C)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
(R941*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSP
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DSP
(R1045Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
DSP
(A1067S)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
DSP
(R1267*)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSP
(K1325Q)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GConflicting classifications of pathogenicity
DSP
(R1458G)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
(S1462I)
Indel
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
DSP
(R1497Q)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
+9 more
GConflicting classifications of pathogenicity
DSP
(D1553N)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
DSP
(M1601I)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DSP
(R1603K)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GConflicting classifications of pathogenicity
DSP
(S1629I)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+6 more
GConflicting classifications of pathogenicity
DSP
(V1639M)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GConflicting classifications of pathogenicity
DSP
(E1652fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
DSP
(S1658F)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GUncertain significance
DSP
(I1689T)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GConflicting classifications of pathogenicity
DSP
(E1723del)
Microsatellite
(inframe_deletion +1 more)
not specified
+5 more
GUncertain significance
DSP
(N1726K)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DSP
(S1814N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSP
(R1873C +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
(I1466fs +2 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
DSP
(R1951* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GPathogenic/Likely pathogenic
DSP
(H2062R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSP
(P1500I +2 more)
Indel
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
DSP
(G2102A +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
DSP
(K2103E +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
(T1505fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
DSP
(I2116T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(G2133fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GPathogenic/Likely pathogenic
DSP
(V2181A +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+3 more
GConflicting classifications of pathogenicity
DSP
(K2271T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GConflicting classifications of pathogenicity
DSP
(T2287S +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+2 more
GUncertain significance
DSP
(L2405I +2 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
DSP
(D2417Y +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GConflicting classifications of pathogenicity
DSP
(I2619V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
DSP
(R2639Q +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
(V2642I +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+10 more
GConflicting classifications of pathogenicity
DSP
(I2645T +2 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
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