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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+4 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(3 prime UTR variant)
Nonsyndromic genetic hearing loss
+5 more
GConflicting classifications of pathogenicity
GJB2
(R216fs)
Deletion
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
GJB2
(C211fs)
Microsatellite
(frameshift variant)
GJB2-related condition
+3 more
GPathogenic/Likely pathogenic
GJB2
(N206S)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+12 more
GPathogenic/Likely pathogenic
GJB2
(I203T)
Single nucleotide variant
(missense variant)
GJB2-related condition
+10 more
GBenign
GJB2
Indel
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
GJB2
(M195T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GJB2
(P173L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB2
(A171fs)
Duplication
(frameshift variant)
GJB2-related condition
+10 more
GPathogenic/Likely pathogenic
GJB2
(K168R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GJB2
(R165W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GJB2
(G160S)
Single nucleotide variant
(missense variant)
GJB2-related condition
+8 more
GConflicting classifications of pathogenicity
GJB2
(Y155*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 1A
+1 more
GPathogenic
GJB2
(V153I)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+10 more
GBenign/Likely benign
GJB2
(R143Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GPathogenic/Likely pathogenic
GJB2
(R143W)
Single nucleotide variant
(missense variant)
GJB2-related condition
+12 more
GPathogenic
GJB2
(S139N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+11 more
GConflicting classifications of pathogenicity
GJB2
(E129K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
GJB2
(R127L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
GJB2
(R127H)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
GJB2
(T123N)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+9 more
GBenign/Likely benign
GJB2
(K122I)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GPathogenic/Likely pathogenic
GJB2
(E114G)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+9 more
GBenign/Likely benign
GJB2
(K105fs)
Deletion
Rare genetic deafness
+5 more
GPathogenic/Likely pathogenic
GJB2
(H100fs)
Deletion
(frameshift variant)
Rare genetic deafness
+10 more
GPathogenic
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Deafness
+14 more
GConflicting classifications of pathogenicity
GJB2
(V84L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic
GJB2
(F83L)
Single nucleotide variant
(missense variant)
GJB2-related condition
+11 more
GBenign/Likely benign
GJB2
(L79fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W77R)
Single nucleotide variant
(missense variant)
GJB2-related condition
+13 more
GPathogenic
GJB2
(G59fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
GJB2
(V63M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GJB2
(L56fs)
Deletion
(frameshift variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(D50N)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+3 more
GPathogenic
GJB2
(E47*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
+11 more
GPathogenic
GJB2
(W44*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
GJB2
(W44*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
GJB2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GJB2
(V37I)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
Duplication
(inframe_insertion)
not provided
GUncertain significance
GJB2
(M34T)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(R32L)
Single nucleotide variant
(missense variant)
Mutilating keratoderma
+9 more
GPathogenic/Likely pathogenic
GJB2
(R32C)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic
GJB2
(V27I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
GJB2
(W24*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(V13fs)
Duplication
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
GJB2
(G12V)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+11 more
GPathogenic/Likely pathogenic
GJB2
(G12fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(G12C)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
GJB2
(G4D)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
GJB2
(M1V)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
Single nucleotide variant
(5 prime UTR variant)
GJB2-related condition
+5 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
GJB2
Single nucleotide variant
(5 prime UTR variant)
not specified
+5 more
GBenign/Likely benign
GJB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GJB2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
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