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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(P175R)
Single nucleotide variant
(missense variant)
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GLikely pathogenic
GJB2
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GLikely benign
GJB2
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GLikely benign
GJB2
(G109E)
Single nucleotide variant
(missense variant)
Hearing impairment
+10 more
GUncertain significance
GJB2
Single nucleotide variant
(5 prime UTR variant)
Knuckle pads, deafness AND leukonychia syndrome
+7 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Knuckle pads, deafness AND leukonychia syndrome
+7 more
GUncertain significance
GJB2
(V193fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 1A
+9 more
GPathogenic/Likely pathogenic
GJB2
(I82V)
Single nucleotide variant
(missense variant)
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GLikely pathogenic
GJB2
(T5M)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
GJB2
(I30V)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
GJB2
(R32S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
GJB2
(R32L)
Single nucleotide variant
(missense variant)
Mutilating keratoderma
+9 more
GPathogenic/Likely pathogenic
GJB2
(V226G)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
GJB2
(I196T)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
GJB2
(A171V)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
GJB2
Single nucleotide variant
(splice acceptor variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
GJB2
(G45E +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 1A
GPathogenic
GJB2
(C169Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+8 more
GConflicting classifications of pathogenicity
GJB2
(W134R)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+8 more
GUncertain significance
GJB2
(M195V)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
GJB2
(S199F)
Single nucleotide variant
(missense variant)
GJB2-related condition
+9 more
GPathogenic/Likely pathogenic
GJB2
(A171fs)
Duplication
(frameshift variant)
GJB2-related condition
+10 more
GPathogenic/Likely pathogenic
GJB2
(K112fs)
Deletion
(frameshift variant)
Rare genetic deafness
+10 more
GPathogenic/Likely pathogenic
GJB2
(W44*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
GJB2
(Y97*)
Duplication
(nonsense)
Autosomal recessive nonsyndromic hearing loss 1A
+8 more
GPathogenic
GJB2
(V27I +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign/Likely benign
GJB2
(V63A)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+9 more
GConflicting classifications of pathogenicity
GJB2
(V91fs)
Duplication
Rare genetic deafness
+11 more
GPathogenic
GJB2
Single nucleotide variant
Ichthyosis, hystrix-like, with hearing loss
+9 more
GBenign/Likely benign
GJB2
(R127C)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+9 more
GPathogenic/Likely pathogenic
GJB2
(W3*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+10 more
GPathogenic/Likely pathogenic
GJB2
(K224Q)
Single nucleotide variant
(missense variant)
Mutilating keratoderma
+9 more
GUncertain significance
GJB2
(K221N)
Single nucleotide variant
(missense variant)
Mutilating keratoderma
+9 more
GUncertain significance
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
(F191L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GJB2
(G160S)
Single nucleotide variant
(missense variant)
GJB2-related condition
+8 more
GConflicting classifications of pathogenicity
GJB2
(V153I)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+10 more
GBenign/Likely benign
GJB2
(K15T)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+9 more
GPathogenic/Likely pathogenic
GJB2
(S139N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+11 more
GConflicting classifications of pathogenicity
GJB2
(T123N)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+9 more
GBenign/Likely benign
GJB2
(G12C)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
GJB2
(E114G)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+9 more
GBenign/Likely benign
GJB2
(H100fs)
Deletion
(frameshift variant)
Rare genetic deafness
+10 more
GPathogenic
GJB2
(V95M)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+11 more
GPathogenic/Likely pathogenic
GJB2
(M93I)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+9 more
GPathogenic/Likely pathogenic
GJB2
(F83L)
Single nucleotide variant
(missense variant)
GJB2-related condition
+11 more
GBenign/Likely benign
GJB2
(M1V)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(Q57*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+10 more
GPathogenic
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+8 more
GBenign
GJB2
(G12V)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+11 more
GPathogenic/Likely pathogenic
GJB2
(G45E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GJB2
(V84L)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+12 more
GPathogenic
GJB2
Single nucleotide variant
(splice donor variant)
GJB2-related condition
+15 more
GPathogenic/Likely pathogenic
GJB2
(D50Y)
Single nucleotide variant
(missense variant)
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GPathogenic
GJB2
(D159V)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+9 more
GUncertain significance
GJB2
(V37I)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(S17F)
Single nucleotide variant
(missense variant)
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GPathogenic
GJB2
(G12R)
Single nucleotide variant
(missense variant)
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GPathogenic
GJB2
(D50N)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+3 more
GPathogenic
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Deafness
+14 more
GConflicting classifications of pathogenicity
GJB2
(L79fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(L56fs)
Deletion
(frameshift variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(R143W)
Single nucleotide variant
(missense variant)
GJB2-related condition
+12 more
GPathogenic
GJB2
(R184P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3A
+10 more
GPathogenic
GJB2
(E120del)
Microsatellite
(inframe_deletion)
not provided
+11 more
GPathogenic
GJB2
(E47*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
+11 more
GPathogenic
GJB2
(G12fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W77R)
Single nucleotide variant
(missense variant)
GJB2-related condition
+13 more
GPathogenic
GJB2
(W24*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W77*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+10 more
GPathogenic
GJB2
(M34T)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
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