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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASD1, SGCE
(G428R)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
+1 more
GConflicting classifications of pathogenicity
CASD1, SGCE
(R343W +4 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 11
GUncertain significance