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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMP22
(T118M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type IA
+5 more
GConflicting classifications of pathogenicity
CDRT15, CDRT4
+7 more
Copy number gain
Charcot-Marie-Tooth disease, type IA
GPathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
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