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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
(A39T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
GJA1
(R76C)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(K134N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJB1
(L89V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GPathogenic/Likely pathogenic
GJA1
(G138D)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
+1 more
GPathogenic/Likely pathogenic
GJA1
(I130T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GPathogenic
GJB1
(L89P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GPathogenic
GJA1
(A40V)
Single nucleotide variant
(missense variant)
Autosomal dominant palmoplantar keratoderma and congenital alopecia
+8 more
GPathogenic
GJA1
(R202H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
Inversion
Hypertelorism
+20 more
GPathogenic
GJB1
(V38G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GJB2
(K122I)
Single nucleotide variant
(missense variant)
not specified
+6 more
GPathogenic/Likely pathogenic
GJA1
(R76S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJA1
Duplication
(inframe_insertion)
Oculodentodigital dysplasia
GPathogenic
GJA1
(G22E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GPathogenic
GJA1
(G21R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(S18P)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(Y17S)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
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