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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
(R15W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic
GJB1
(E41D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GJB1
(S49P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GJB1
(T55I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GJB1
(V63I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GJB1
(R75W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
GJB1
(L76fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(V136A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GPathogenic
GJB1
(V139M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
GJB1
(C179Y)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GJB1
(E186K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GJB1
Microsatellite
(inframe_insertion)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
GJB1
(N205S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GJB1
(F235C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+4 more
GConflicting classifications of pathogenicity
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