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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(S72fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 1A
GPathogenic
GJB2
(W44*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic