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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(R677P +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
KCNQ2
(A265V)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
+4 more
GPathogenic/Likely pathogenic
KCNQ2
(N258I)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
+1 more
GUncertain significance
KCNQ2
(R198Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic
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