U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 10

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
(E120del)
Microsatellite
(inframe_deletion)
not provided
+11 more
GPathogenic
GJB2
(K112fs)
Deletion
(frameshift variant)
Mutilating keratoderma
+10 more
GPathogenic/Likely pathogenic
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Ichthyosis, hystrix-like, with hearing loss
+14 more
GConflicting classifications of pathogenicity
GJB2
(V37I)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(M34T)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W24*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(G12V)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+11 more
GPathogenic/Likely pathogenic
GJB2
(G12fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
Single nucleotide variant
(splice acceptor variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination