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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SZT2
(V2625M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(P2681L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(R3287C +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
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