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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP, DSP-AS1
(M1fs)
Duplication
not provided
+7 more
GConflicting classifications of pathogenicity
DSP, DSP-AS1
(V30M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(R129Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DSP
(D230N)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSP
(A261V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DSP
(I305F)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
DSP
(Y494F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
DSP
(M544L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSP
(N593S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GBenign/Likely benign
DSP
(D648Y)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(R808C)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
DSP
(R908H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSP
(G939S)
Single nucleotide variant
(missense variant)
not specified
+8 more
GBenign/Likely benign
DSP
(Q986H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DSP
(A1074E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(K1099N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+5 more
GLikely benign
DSP
(Y1188H)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
DSP
(N1200K)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GConflicting classifications of pathogenicity
DSP
(I1216V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(E1345A)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GConflicting classifications of pathogenicity
DSP
(R1458G)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
(Y1512C)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GBenign
DSP
(N1526K)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+7 more
GBenign
DSP
(V1530F)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GBenign/Likely benign
DSP
(R1537C)
Single nucleotide variant
(missense variant +1 more)
not provided
+12 more
GBenign/Likely benign
DSP
(K1581E)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
DSP
(A1584T)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GLikely benign
DSP
(S1658F)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GUncertain significance
DSP
(Q1672E)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+6 more
GUncertain significance
DSP
(E1723Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
DSP
(N1726K)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
DSP
(R1738Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GBenign
DSP
(E1740K)
Single nucleotide variant
(missense variant +1 more)
Lethal acantholytic epidermolysis bullosa
+11 more
GConflicting classifications of pathogenicity
DSP
(R1775I)
Single nucleotide variant
(missense variant +1 more)
not specified
+9 more
GConflicting classifications of pathogenicity
DSP
(E1833V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+12 more
GBenign/Likely benign
DSP
(D1992E +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GConflicting classifications of pathogenicity
DSP
(D2070N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(A2294G +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(D2341N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DSP
(S2606N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSP
(I2622V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
DSP
(R2639Q +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
(Y2731H +2 more)
Single nucleotide variant
(missense variant)
Lethal acantholytic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
DSP
(T2767N +2 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+12 more
GBenign/Likely benign
DSP
(I2783V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DSP
(M2819L +2 more)
Single nucleotide variant
(missense variant)
Woolly hair-skin fragility syndrome
+8 more
GConflicting classifications of pathogenicity
DSP
(S2821L +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
DSP
(G2832V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GUncertain significance
DSP
(I2869V +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GBenign/Likely benign
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