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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKL5, RS1
(R200C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CDKL5, RS1
(R182C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CDKL5, RS1
(R102W)
Single nucleotide variant
(missense variant +1 more)
Juvenile retinoschisis
+1 more
GPathogenic/Likely pathogenic
CDKL5, RS1
(G70D)
Single nucleotide variant
(missense variant +1 more)
Juvenile retinoschisis
GLikely pathogenic
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