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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG3
(N126S +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely pathogenic
ALG3, LOC129938049
(G16W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity