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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB3
(R101Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
+1 more
GConflicting classifications of pathogenicity
GJB3
(R106C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
+3 more
GConflicting classifications of pathogenicity
GJB3
(K115fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB3
(V84I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GBenign/Likely benign
GJB3
(V167M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GJB3
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 1
+4 more
GBenign/Likely benign
GJB3
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 1
+3 more
GBenign
GJB3
(A194T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
GJB3
(L34P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
GPathogenic
GJB3
(R180*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GUncertain significance
GJB3
(E183K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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