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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMM2
(E139K)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
+1 more
GPathogenic/Likely pathogenic
PMM2
(R141H)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type I
+4 more
GPathogenic/Likely pathogenic