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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
(R1495* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
+3 more
GPathogenic
OTOF
Single nucleotide variant
(splice acceptor variant)
Hearing impairment
GLikely pathogenic