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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(R2083H +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GConflicting classifications of pathogenicity
DSP
(S1927N +2 more)
Single nucleotide variant
(missense variant)
DSP-related disorder
GUncertain significance