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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(R389H)
Single nucleotide variant
(missense variant)
ABCD1-related disorder
+2 more
GPathogenic/Likely pathogenic
ABCD1
(Q472fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
+1 more
GPathogenic