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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX2
(W250R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PEX2
(Y70C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+3 more
GConflicting classifications of pathogenicity