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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MGAT2
(W362*)
Single nucleotide variant
(nonsense)
MGAT2-congenital disorder of glycosylation
GLikely pathogenic
MGAT2
(T412fs)
Deletion
(frameshift variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance