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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(M163V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GJB2
(R32H)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GPathogenic
GJB2
(W24*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
GJB6
(E101Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
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