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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(L90P)
Single nucleotide variant
(missense variant)
Deafness
+14 more
GConflicting classifications of pathogenicity
GJB2
(L56fs)
Deletion
(frameshift variant)
Nonsyndromic genetic hearing loss
GPathogenic