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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHROMR, PRKRA
(P222L +3 more)
Single nucleotide variant
(missense variant)
PRKRA-related condition
+2 more
GPathogenic
CHROMR, PRKRA
(C100R +3 more)
Single nucleotide variant
(missense variant)
Dystonia 16
GUncertain significance