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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP-AS1, DSP
(G36A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(I512V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GConflicting classifications of pathogenicity
DSP
(V712M)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
DSP
(Y763C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
(Y895H)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
(A897P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DSP
(R925W)
Single nucleotide variant
(missense variant)
DSP-related condition
+12 more
GConflicting classifications of pathogenicity
DSP
(I978V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DSP
(K1498E)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
+7 more
GUncertain significance
DSP
(G2133S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
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