"Baylor Genetics"[submitter] AND "OTOF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6136	NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	OTOF (R1939Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GPathogenic
Select item 48253	NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	LOC112840921, OTOF (E1700Q +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 229077	NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn)	OTOF (K1306N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 178507	NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)	OTOF (R1236G +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1030447	NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala)	OTOF (P1005A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 6137	NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	OTOF (Q829* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 597789	NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe)	OTOF (L491F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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