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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB3
(L34P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
GPathogenic
GJB3
(R101Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
+1 more
GConflicting classifications of pathogenicity
GJB3
(P223T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+1 more
GConflicting classifications of pathogenicity
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