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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX5
Indel
(inframe_deletion +1 more)
Peroxisome biogenesis disorder 2B
+2 more
GLikely pathogenic
PEX5
(R77H +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+3 more
GUncertain significance
PEX5
(M272T +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
PEX5
(D621N +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+2 more
GUncertain significance
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