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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CP
Single nucleotide variant
(splice acceptor variant)
Deficiency of ferroxidase
GLikely pathogenic
CP
(L919P)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic/Likely pathogenic