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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP, DSP-AS1
(R44W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSP
(C81Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
DSP
(Q90*)
Single nucleotide variant
(nonsense)
not specified
+4 more
GPathogenic
DSP
(N115S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP
(I156S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(R160*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
DSP
(C174F)
Single nucleotide variant
(missense variant)
Lethal acantholytic epidermolysis bullosa
+9 more
GConflicting classifications of pathogenicity
DSP
(C191Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSP
(E201K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(E293K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DSP
(D297N)
Single nucleotide variant
(missense variant)
Conduction disorder of the heart
+8 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
DSP
(A566T)
Single nucleotide variant
(missense variant)
Palmoplantar blistering
+11 more
GConflicting classifications of pathogenicity
DSP
(I679T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(G697E)
Indel
(missense variant)
not provided
GUncertain significance
DSP
(V712M)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
DSP
(L851Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
DSP
(R1045*)
Single nucleotide variant
(nonsense)
Cardiac arrhythmia
+6 more
GPathogenic/Likely pathogenic
DSP
(N1051K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
DSP
(T1217S)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GUncertain significance
DSP
(I1409del)
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GUncertain significance
DSP
(K1466M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DSP
(S1562P)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
DSP
(I1703F)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
DSP
(R1738*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GPathogenic
DSP
(R1775I)
Single nucleotide variant
(missense variant +1 more)
not specified
+9 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSP
(E1234* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
DSP
(L1971P +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GConflicting classifications of pathogenicity
DSP
(A2092V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DSP
(E2109K +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSP
(R1592G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(S2007R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(I2038V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSP
(K2706M +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+8 more
GConflicting classifications of pathogenicity
DSP
(L2128P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DSP
(I2146V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSP
(A2162V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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