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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(Q309*)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q588*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSP
(R1949* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
GPathogenic
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