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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG3
(W421* +1 more)
Single nucleotide variant
(nonsense +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
(R117P +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
(G96R +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely pathogenic
ALG3
Deletion
(splice donor variant +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
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