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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(R184Q)
Single nucleotide variant
(missense variant)
not specified
+6 more
GPathogenic/Likely pathogenic
GJB2
(R184P)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+10 more
GConflicting classifications of pathogenicity
GJB2
(M163V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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)
Nonsyndromic genetic hearing loss
+12 more
GPathogenic
GJB2
(E120del)
Microsatellite
(inframe_deletion)
Nonsyndromic genetic hearing loss
+11 more
GPathogenic
GJB2
(S113R)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+14 more
GConflicting classifications of pathogenicity
GJB2
(L79fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W77*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+10 more
GPathogenic
GJB2
(R75Q)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic
GJB2
(L56fs)
Deletion
(frameshift variant)
Nonsyndromic genetic hearing loss
GPathogenic
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
(S19T)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(G12V)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+11 more
GPathogenic/Likely pathogenic
GJB2
(G12fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
Single nucleotide variant
(splice donor variant)
GJB2-related condition
+15 more
GPathogenic/Likely pathogenic
CRYL1, GJB2
+15 more
Deletion
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GPathogenic
GJB6
(A40V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GUncertain significance
LOC130009317, LOC130009318
+9 more
Deletion
Autosomal recessive nonsyndromic hearing loss 1A
GPathogenic
GJB2
Variation
Autosomal recessive nonsyndromic hearing loss 1A
GPathogenic
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