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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB4A
(F430L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(F269L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(T114M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
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