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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX6
(R601Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
+7 more
GConflicting classifications of pathogenicity
PEX6
(R99W)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+3 more
GUncertain significance