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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063295, TUBB4A
(R2Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 6
+1 more
GPathogenic
LOC130063295, TUBB4A
(R53W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LOC130063295, TUBB4A
(R2G +2 more)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 4
GPathogenic
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