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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB3
(L117P +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(T149M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TUBB3
(S230L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBB3
Single nucleotide variant
(synonymous variant)
Complex cortical dysplasia with other brain malformations 1
+2 more
GConflicting classifications of pathogenicity
TUBB3
(E256K +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
GConflicting classifications of pathogenicity
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