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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+14 more
GConflicting classifications of pathogenicity
GJB2
(H67R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3A
+1 more
GUncertain significance
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
(G12fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
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