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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG12
(N334fs)
Deletion
(frameshift variant)
ALG12-congenital disorder of glycosylation
+2 more
GPathogenic/Likely pathogenic
ALG12
(Q40fs)
Deletion
(frameshift variant)
ALG12-congenital disorder of glycosylation
+1 more
GPathogenic