"Genetic Testing Center for Deafness, Department of Otolaryngology Hea - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65802	NM_194248.3(OTOF):c.4227+1G>T	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 627468	NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter)	OTOF (E997* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 627469	NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter)	OTOF (E601*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic

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