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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(I1230V +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP7B
(T991M +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+4 more
GConflicting classifications of pathogenicity
ATP7B
(Q736* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP7B
(G869R +4 more)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+3 more
GPathogenic/Likely pathogenic
ATP7B
(V761fs +4 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(I116T)
Single nucleotide variant
(missense variant)
ATP7B-related condition
+3 more
GConflicting classifications of pathogenicity
ATP7B
(R47K +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(A38fs)
Duplication
(frameshift variant)
Wilson disease
GPathogenic
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