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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX26
(L12fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GPathogenic
PEX26
(G183D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX26
(R192*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GPathogenic
PEX26
(Q205fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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