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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
(R655C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+4 more
GConflicting classifications of pathogenicity
PEX16
(V88M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+4 more
GConflicting classifications of pathogenicity