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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX12
Deletion
(splice acceptor variant)
not provided
+2 more
GBenign/Likely benign
PEX12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX12
(Y87*)
Insertion
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GPathogenic/Likely pathogenic
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