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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(Q1192fs +4 more)
Deletion
(frameshift variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(L1373P +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(S1363F +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(R1319* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
(L1299F +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(P1273L +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(N1270S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(V1062fs +4 more)
Duplication
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
(A1004V +27 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(R1224L +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ATP7B
(E1173K +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(W1004* +25 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ATP7B
(R1151C +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GPathogenic/Likely pathogenic
ATP7B
(I1148T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ATP7B
(I1001fs +4 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
(G1027D +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related disorder
+3 more
GUncertain significance
ATP7B
(I1102T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(G1101R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(G1099S +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(V1073M +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
(E1064fs +4 more)
Duplication
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(E1064A +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATP7B
(G916fs +4 more)
Duplication
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
(T977M +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+3 more
GPathogenic
ATP7B
(R969Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP7B
(T935M +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(R919W +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(splice acceptor variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ATP7B
(A874V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP7B
(G869R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+3 more
GPathogenic/Likely pathogenic
ATP7B
(G632D +14 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(K727fs +4 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
+2 more
GConflicting classifications of pathogenicity
ATP7B
(R778W +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+2 more
GPathogenic
ATP7B
(L633P +9 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(M658fs +2 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
ATP7B
(M769V +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+2 more
GPathogenic
ATP7B
(R639fs +2 more)
Duplication
(frameshift variant +1 more)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(A607fs +2 more)
Indel
(frameshift variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
Deletion
(inframe_deletion +1 more)
Wilson disease
GUncertain significance
ATP7B
(L708P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GPathogenic
ATP7B
Deletion
(nonsense +1 more)
Wilson disease
+1 more
GPathogenic
ATP7B
(M665I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP7B
(M665V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATP7B
(M645R +1 more)
Single nucleotide variant
(missense variant +1 more)
ATP7B-related disorder
+3 more
GPathogenic/Likely pathogenic
ATP7B
(D642H +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(G626A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(intron variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(P610L +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GUncertain significance
ATP7B
Single nucleotide variant
(splice acceptor variant +1 more)
Wilson disease
+1 more
GPathogenic
ATP7B
(Q511* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GPathogenic
ATP7B
(V249L +3 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(V276fs +1 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(C271*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
ATP7B
(I161T)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(V149M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
(I116T)
Single nucleotide variant
(missense variant)
Wilson disease
+4 more
GConflicting classifications of pathogenicity
ATP7B
(N41S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ALG11, ATP7B
+1 more
Single nucleotide variant
ALG11-congenital disorder of glycosylation
+2 more
GUncertain significance
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