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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB3
(V107L +1 more)
Single nucleotide variant
(missense variant)
Abnormal cerebral morphology
GLikely pathogenic
TUBB3
(E216K +1 more)
Single nucleotide variant
(missense variant)
TUBB3-related tubulinopathy
+2 more
GPathogenic/Likely pathogenic