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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
(A96G)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GLikely benign
GJB2
(T186M)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Knuckle pads, deafness AND leukonychia syndrome
+7 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB2
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 3A
+3 more
GConflicting classifications of pathogenicity
GJB2
(D66N)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+4 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 3A
+2 more
GUncertain significance
GJB2
(V193fs)
Deletion
(frameshift variant)
Knuckle pads, deafness AND leukonychia syndrome
+9 more
GPathogenic/Likely pathogenic
GJB2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GJB2
(V13M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GJB2
(T86R)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+4 more
GConflicting classifications of pathogenicity
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
(R216fs)
Deletion
(frameshift variant)
Rare genetic deafness
+1 more
GLikely pathogenic
GJB2
(V226G)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
GJB2
(I196T)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
GJB2
(A171V)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
GJB2
(I20M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(splice acceptor variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
GJB2
Single nucleotide variant
Nonsyndromic Hearing Loss, Dominant
+4 more
GBenign
GJB2
(L81V)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+3 more
GBenign/Likely benign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GUncertain significance
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+2 more
GBenign
GJB2
Deletion
(3 prime UTR variant)
Keratitis ichthyosis and deafness syndrome
+4 more
GUncertain significance
GJB2
(C169Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+9 more
GConflicting classifications of pathogenicity
GJB2
(W134R)
Single nucleotide variant
(missense variant)
Knuckle pads, deafness AND leukonychia syndrome
+8 more
GUncertain significance
GJB2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB2
(M195V)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
GJB2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GJB2
(S199F)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
GJB2
(A171fs)
Duplication
(frameshift variant)
Rare genetic deafness
+11 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
+9 more
GPathogenic
GJB2
(E119K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GJB2
(V27I +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign/Likely benign
GJB2
(V63A)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
GJB2
(V91fs)
Duplication
not provided
+11 more
GPathogenic
GJB2
(R165W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
GJB2
(W3*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 1A
+10 more
GPathogenic/Likely pathogenic
GJB2
(K224Q)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
GJB2
(K221N)
Single nucleotide variant
(missense variant)
Mutilating keratoderma
+9 more
GUncertain significance
GJB2
(N206S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+12 more
GPathogenic/Likely pathogenic
GJB2
(I203T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+10 more
GBenign
GJB2
(F191L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GJB2
(G160S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
GJB2
(V153I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+10 more
GBenign/Likely benign
GJB2
(K15T)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
GJB2
(S139N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+11 more
GConflicting classifications of pathogenicity
GJB2
(R127H)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+5 more
GBenign/Likely benign
GJB2
(T123N)
Single nucleotide variant
(missense variant)
not specified
+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)
Autosomal recessive nonsyndromic hearing loss 1A
+9 more
GBenign/Likely benign
GJB2
(H100fs)
Deletion
(frameshift variant)
not provided
+10 more
GPathogenic
GJB2
(V95M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+11 more
GPathogenic/Likely pathogenic
GJB2
(M93I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+9 more
GPathogenic/Likely pathogenic
GJB2
(F83L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+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)
not provided
+10 more
GPathogenic
GJB2
(G4D)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
GJB2
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1A
+5 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 1A
+5 more
GBenign
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)
Autosomal recessive nonsyndromic hearing loss 1A
+5 more
GConflicting classifications of pathogenicity
GJB2
(V27I)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+5 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 3A
+8 more
GBenign
GJB2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis, hystrix-like, with hearing loss
+3 more
GBenign
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