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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(D1296N +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP7B
(N1270S +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+2 more
GConflicting classifications of pathogenicity
ATP7B
(H1034R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATP7B
(V536A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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