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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB3
(V60L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB3
(G26S +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
GConflicting classifications of pathogenicity
TUBB3
(E216K +1 more)
Single nucleotide variant
(missense variant)
TUBB3-related tubulinopathy
+2 more
GPathogenic/Likely pathogenic
TUBB3
(A302T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TUBB3
(R308P +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
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