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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A2
(R200fs +3 more)
Deletion
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
(A140fs +3 more)
Deletion
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
Single nucleotide variant
(splice donor variant)
SLC35A2-congenital disorder of glycosylation
GPathogenic
LOC130068258, LOC130068257
+1 more
Deletion
(splice acceptor variant +2 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
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