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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(V91A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic