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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(C169R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GJB2
(V37I)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W24*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
Single nucleotide variant
(splice donor variant)
Rare genetic deafness
+15 more
GPathogenic/Likely pathogenic
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