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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(E120del)
Microsatellite
(inframe_deletion)
Rare genetic deafness
+11 more
GPathogenic
GJB2
(K112fs)
Deletion
(frameshift variant)
Nonsyndromic genetic hearing loss
+10 more
GPathogenic/Likely pathogenic
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+14 more
GConflicting classifications of pathogenicity
GJB2
(V37I)
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)
not provided
+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
POU3F4
(G148R)
Single nucleotide variant
(missense variant)
X-linked mixed hearing loss with perilymphatic gusher
GUncertain significance
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