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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX1
(G843D +2 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GPathogenic
PEX1
(I643fs +2 more)
Duplication
(frameshift variant)
not provided
+8 more
GPathogenic