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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX6
(R888P +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX6
(R876W +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX6-related disorder
+4 more
GConflicting classifications of pathogenicity
PEX6
(E439fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+5 more
GPathogenic
PEX6
Deletion
(inframe_deletion +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
GLikely pathogenic
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