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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
(S26L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+2 more
GPathogenic
GJB1
(P87A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(M194V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(R264C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
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