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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG2
(R39Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance
COG2
(R510L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIq
GUncertain significance