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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATP7B
(P1379S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATP7B
(Q1351* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ATP7B
(V1297I +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP7B
(N1270S +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+3 more
GPathogenic
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
+2 more
GConflicting classifications of pathogenicity
ATP7B
(D1222fs +4 more)
Deletion
(frameshift variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(V1216M +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(H1207R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ATP7B
(R1156H +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP7B
(I1148T +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATP7B
(V1140A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
ATP7B
Single nucleotide variant
(synonymous variant)
ATP7B-related condition
+4 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
(R1038fs +4 more)
Duplication
(frameshift variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
+2 more
GBenign
ATP7B
Single nucleotide variant
(synonymous variant)
not provided
+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
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ATP7B
(C985R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(T977M +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+3 more
GPathogenic
ATP7B
(T974M +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+3 more
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ATP7B
(R952K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign
ATP7B
(L936V +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GUncertain significance
ATP7B
(I929V +3 more)
Single nucleotide variant
(missense variant +1 more)
ATP7B-related condition
+3 more
GConflicting classifications of pathogenicity
ATP7B
(G869R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+3 more
GPathogenic/Likely pathogenic
ATP7B
(V761fs +4 more)
Deletion
(frameshift variant)
Wilson disease
+1 more
GPathogenic
ATP7B
(K832R +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ATP7B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
(R827W +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
(W779* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(M769V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
ATP7B
(V731M +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+1 more
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ATP7B
(G710S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
ATP7B
(L708P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GPathogenic
ATP7B
(M665I +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+3 more
GConflicting classifications of pathogenicity
ATP7B
(H639Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
(G614C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP7B
(I471fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ATP7B
(E541K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(I426fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ATP7B
(V536A +1 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+4 more
GConflicting classifications of pathogenicity
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
(S406A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ATP7B
(C305*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
ATP7B
(C271*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, Wolff type
+2 more
GPathogenic
ATP7B
(I210V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
(N82S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP7B
(N41S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATP7B
(M33T)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+3 more
GUncertain significance
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