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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Paroxysmal nonkinesigenic dyskinesia 1
+13 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
Single nucleotide variant
(3 prime UTR variant +1 more)
Episodic kinesigenic dyskinesia
+1 more
GPathogenic
ALDOA, ASPHD1
+27 more
Copy number loss
Infantile convulsions and choreoathetosis
GPathogenic
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