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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(I1573T +2 more)
Single nucleotide variant
(missense variant)
Bilateral sensorineural hearing impairment
+3 more
GPathogenic/Likely pathogenic
OTOF
(K144* +2 more)
Insertion
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
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