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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH19
(Q385*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 9
GPathogenic
PCDH19
(Q385E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 9
GPathogenic
PCDH19
(N340S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 9
+3 more
GPathogenic
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