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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB3
(R190H +1 more)
Single nucleotide variant
(missense variant)
TUBB3-related tubulinopathy
+3 more
GPathogenic/Likely pathogenic
TUBB3
(E410K +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+3 more
GPathogenic