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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
(I436fs +2 more)
Duplication
(frameshift variant)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
OTOF
(L517P)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic