"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699487	NM_194248.3(OTOF):c.4885del (p.His1629fs)	OTOF (H1629fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1699388	NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn)	OTOF (D1475N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 178507	NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)	OTOF (R1236G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1806146	NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)	OTOF (T1006S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1805732	NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)	OTOF (R652W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21823	NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)	OTOF (P490Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1806149	NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)	OTOF (D376N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance

ClinVar