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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
(V91M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+2 more
GPathogenic/Likely pathogenic
GJB1
(R220*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
GJB1
(F235C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+4 more
GConflicting classifications of pathogenicity
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