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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(R422H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic
TUBA1A
(R402H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
TUBA1A
(R402C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(R264C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
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