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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
(L275fs +2 more)
Deletion
(frameshift variant)
Congenital disorder of glycosylation, type IIw
+5 more
GPathogenic
SLC37A4
(G339C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SLC37A4
(W118R +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GPathogenic
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