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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(V1297I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP7B
(D1296N +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B
(A874V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP7B
(Q717* +2 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GPathogenic
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