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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB3
(D66N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R101Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R104Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R106C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
+3 more
GConflicting classifications of pathogenicity
GJB3
(V167M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GJB3
(P169L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R180*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GUncertain significance
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