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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
(T55I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GJB1
(V91E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(Y154C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(G199D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
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