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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(K122I)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
GJB2
(V84L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+12 more
GPathogenic
GJB2
(V37I)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
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