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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B, ALG11
+1 more
Single nucleotide variant
Wilson disease
+2 more
GUncertain significance
ALG11
(N257S)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(L268I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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