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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(G416S +1 more)
Single nucleotide variant
(missense variant)
TUBA1A-associated tubulinopathy
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(V118L +1 more)
Single nucleotide variant
(missense variant)
TUBA1A-associated tubulinopathy
+1 more
GPathogenic