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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7A
(T994I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
ATP7A
(P1386S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, X-linked
+2 more
GPathogenic