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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(Y389H +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GLikely pathogenic
ATP7B
(M566V +19 more)
Single nucleotide variant
(missense variant)
Wilson disease
GLikely pathogenic
ATP7B
(C592F +4 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
Deletion
(nonsense)
Wilson disease
GPathogenic
ATP7B
(C592Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(T784A +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GLikely pathogenic
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
ATP7B
(M789T +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+1 more
GConflicting classifications of pathogenicity
ATP7B
(G1080S +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B
(G1230D +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(T766M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(G943C +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(G1000R +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(G1221E +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(C1375S +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(L523* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ATP7B
(Y1331S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATP7B
(L641S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP7B
(V826fs +3 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ATP7B
(G591D +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(P1379S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
ATP7B
(T991M +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+4 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ATP7B
(G943S +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GPathogenic
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