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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(R448* +3 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
KCNQ2
(D212fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 7
GLikely pathogenic