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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A1
(T156R)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
SLC35A1
(E196K)
Single nucleotide variant
(missense variant +1 more)
SLC35A1-congenital disorder of glycosylation
GPathogenic/Likely pathogenic