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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM63A
(G567S)
Single nucleotide variant
(missense variant)
Leukodystrophy
GPathogenic
TMEM63A
(Y559H)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 19, transient infantile
GPathogenic
TMEM63A
(I462N)
Single nucleotide variant
(missense variant)
Leukodystrophy
GPathogenic
TMEM63A
(G168E)
Single nucleotide variant
(missense variant)
Leukodystrophy
GPathogenic
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