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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(Q1379R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(T1434M +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
(P1379S +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+4 more
GConflicting classifications of pathogenicity
ATP7B
(R1115C +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ATP7B
(R1113T +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(V1297I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(D1089G +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(N1063I +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GLikely pathogenic
ATP7B
(H1207R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ATP7B
(A1183G +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
(A1003V +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ATP7B
(H1034R +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATP7B
(S932* +3 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GPathogenic
ATP7B
(S837N +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(splice donor variant +1 more)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(K832R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GBenign
ATP7B
(M658fs +2 more)
Deletion
(frameshift variant +1 more)
Wilson disease
+2 more
GPathogenic
ATP7B
(M665I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(M665V +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+4 more
GConflicting classifications of pathogenicity
ATP7B
(M645R +1 more)
Single nucleotide variant
(missense variant +1 more)
ATP7B-related condition
+3 more
GPathogenic/Likely pathogenic
ATP7B
(G353fs +1 more)
Deletion
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
Single nucleotide variant
(intron variant)
ATP7B-related condition
+3 more
GConflicting classifications of pathogenicity
ATP7B
(N41S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALG11, ATP7B
+1 more
Single nucleotide variant
Wilson disease
+2 more
GUncertain significance
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