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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG3
(R171Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ALG3
(F120S +2 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(G96R +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely pathogenic
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