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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX12
(C304fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX12
(R34S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign