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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB3
(R62Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Gnot provided
TUBB3
(G71R)
Single nucleotide variant
(5 prime UTR variant +1 more)
TUBB3-related tubulinopathy
+1 more
GPathogenic
TUBB3
(G26S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB3
(R262C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TUBB3
(R190H +1 more)
Single nucleotide variant
(missense variant)
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
+3 more
GPathogenic/Likely pathogenic
TUBB3
(A302T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TUBB3
(R308C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TUBB3
(E410K +1 more)
Single nucleotide variant
(missense variant)
TUBB3-Releated Disorders
+3 more
GPathogenic
TUBB3
(D417N +1 more)
Single nucleotide variant
(missense variant)
TUBB3-related tubulinopathy
+1 more
GPathogenic
TUBB3
(D417H +1 more)
Single nucleotide variant
(missense variant)
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
GPathogenic
TUBB3
Variation
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
GPathogenic
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