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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX5
(V202L +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PEX5
(M272T +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
PEX5
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
PEX5
(N520S +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+5 more
GConflicting classifications of pathogenicity
PEX5
(S597N +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2A (Zellweger)
+4 more
GUncertain significance
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