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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(T1434M +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP7B
(A1057fs +4 more)
Deletion
(frameshift variant)
Wilson disease
+1 more
GPathogenic
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
(A1003T +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GPathogenic/Likely pathogenic
ATP7B
(G988E +4 more)
Single nucleotide variant
(missense variant)
Hand tremor
+2 more
GLikely pathogenic
ATP7B
Deletion
(intron variant)
Wilson disease
GConflicting classifications of pathogenicity
ATP7B
(M658fs +2 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP7B
(M665I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP7B
(R616Q +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GPathogenic
ATP7B
(E411K +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(L178fs)
Microsatellite
(frameshift variant)
Wilson disease
GLikely pathogenic
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