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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA6
(V456D)
Single nucleotide variant
(missense variant +1 more)
Focal-onset seizure
+10 more
GLikely pathogenic
SLC32A1
(L374P)
Single nucleotide variant
(missense variant)
Obesity
+2 more
GUncertain significance
ITSN1
Single nucleotide variant
(splice acceptor variant +1 more)
Generalized-onset seizure
GLikely pathogenic
BCR, C22orf15
+16 more
Copy number gain
Generalized-onset seizure
+1 more
GUncertain significance
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