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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(R75W)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GPathogenic
GJB2
(E47*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+11 more
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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