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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF14
(S7I)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia 27A
GUncertain significance
ABHD13, ADPRHL1
+56 more
Copy number gain
not provided
GPathogenic