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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB2B
(E410K)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBB2B
(L139P)
Single nucleotide variant
(missense variant)
Tubulinopathy
GLikely pathogenic
TUBB2B
(I24V)
Single nucleotide variant
(missense variant)
TUBB2B-related tubulinopathy
GUncertain significance
BPHL, DUSP22
+21 more
Copy number gain
not provided
GPathogenic
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