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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX2
(I257V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5B
+1 more
GUncertain significance
PEX2
(Y70C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX2
(Q31E)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
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