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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB2A
(P273L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GLikely pathogenic
TUBB2A
(A248V +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+3 more
GConflicting classifications of pathogenicity
TUBB2A
(G98R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic/Likely pathogenic
LOC129995635, TUBB2A
(R2H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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