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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKL5, RS1
(Q154R)
Single nucleotide variant
(missense variant +1 more)
Juvenile retinoschisis
+1 more
GPathogenic
CDKL5, RS1
(G140E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic