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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB3
(R32W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GJB3
(D66del)
Deletion
(inframe_deletion)
not specified
+2 more
GConflicting classifications of pathogenicity
GJB3
(H105N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
GJB3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
GJB3
(V167M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GJB3
(Y177D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
GJB3
(E183K)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
+2 more
GConflicting classifications of pathogenicity
GJB3
Deletion
not specified
+1 more
GConflicting classifications of pathogenicity
GJB3
(R224G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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