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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
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
(Q1178H +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
+1 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ATP7B
(V1297I +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+3 more
GConflicting classifications of pathogenicity
ATP7B
Indel
(nonsense)
Wilson disease
GPathogenic/Likely pathogenic
ATP7B
(I1230V +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP7B
(T1208M +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ATP7B
(H1207R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
+2 more
GConflicting classifications of pathogenicity
ATP7B
(A961T +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(P1141R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GConflicting classifications of pathogenicity
ATP7B
(V1140A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
ATP7B
(A1028G +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATP7B
(H1042Y +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ATP7B
(G1027D +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related disorder
+3 more
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GPathogenic
ATP7B
(E1064A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ATP7B
(H1034R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP7B
(I1021V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
ATP7B
(T991M +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+4 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
+1 more
GBenign
ATP7B
(R952K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign
ATP7B
(I929V +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+3 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
(G869R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ATP7B
(K832R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
ATP7B
(V609M +14 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
ATP7B
(E677K +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GConflicting classifications of pathogenicity
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)
ATP7B-related disorder
+4 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
(M645R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
+3 more
GConflicting classifications of pathogenicity
ATP7B
(V536A +1 more)
Single nucleotide variant
(missense variant)
ATP7B-related disorder
+4 more
GConflicting classifications of pathogenicity
ATP7B
(V408M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ATP7B
(A373T +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(A476T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
(V456L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ATP7B
(G340S +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(S406A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
(H306R +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(R166W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP7B
(R136W)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(N41S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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