"King Laboratory, University of Washington"[submitter] AND "OTOF"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445635	NM_194248.3(OTOF):c.5714G>A (p.Gly1905Asp)	OTOF (G1138D +2 more)	Single nucleotide variant (missense variant)	Tricho-oculo-dermo-vertebral syndrome	GLikely pathogenic
Select item 2445636	NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)	OTOF (K820* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 402270	NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF (R1583C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic/Likely pathogenic
Select item 402271	NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)	OTOF (R1344* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 65787	NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)	LOC129933334, OTOF (E747* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness +2 more	GPathogenic
Select item 2445637	NM_194248.3(OTOF):c.1912+1G>C	OTOF	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2445638	NM_194248.3(OTOF):c.897+5G>C	OTOF	Single nucleotide variant (intron variant)	Tricho-oculo-dermo-vertebral syndrome	GLikely pathogenic

ClinVar