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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(R685T)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GUncertain significance
DSP
(Y1188H)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
DSP
(R1400*)
Single nucleotide variant
(nonsense +1 more)
Cardiomyopathy
+9 more
GPathogenic/Likely pathogenic
DSP
(Q1433*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic/Likely pathogenic
DSP
(Q1667*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+5 more
GPathogenic/Likely pathogenic
DSP
(R1775I)
Single nucleotide variant
(missense variant +1 more)
not specified
+9 more
GConflicting classifications of pathogenicity
DSP
(S1289fs +2 more)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(L2487P +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
GUncertain significance
DSP
(A2655G +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+4 more
GConflicting classifications of pathogenicity
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