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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(S932* +3 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GPathogenic
ATP7B
(G869R +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+3 more
GPathogenic/Likely pathogenic