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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(G1347S +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+1 more
GConflicting classifications of pathogenicity
ATP7B
(L1299F +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(A1197T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP7B
(G1186S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ATP7B
(G1101R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(T1092M +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP7B
(G1061E +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
ATP7B
(A1003T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(T991M +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+4 more
GConflicting classifications of pathogenicity
ATP7B
(D835V +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(F490C +15 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(L795F +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(R778Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+2 more
GPathogenic
ATP7B
(S595R +6 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G711W +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(L544fs +1 more)
Deletion
(frameshift variant +1 more)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(D642Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
Deletion
(frameshift variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(P344Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(S391fs +1 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(C271*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, Wolff type
+2 more
GPathogenic
ATP7B
(V144A +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(G53A +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(Q7fs)
Deletion
(frameshift variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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