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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(N206S)
Single nucleotide variant
(missense variant)
Mutilating keratoderma
+12 more
GPathogenic/Likely pathogenic
GJB2
(G12fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic