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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCG
(H101Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRKCG
(H116R)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia
+1 more
GUncertain significance
PRKCG
(S119P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
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