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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(D1044G +27 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G1078R +25 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(A1057fs +4 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ATP7B
(T1011I +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP7B
(G1061E +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
ATP7B
(N448K +15 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(M658fs +2 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATP7B
(E332*)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GPathogenic
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