"Revvity Omics, Revvity"[submitter] AND "OTOF"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434523	NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)	OTOF (R1188H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 48258	NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)	OTOF (V1778F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 21848	NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)	OTOF (D1322E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 2205916	NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)	OTOF (R1155Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 21840	NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)	OTOF (R963* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2689643	NM_194248.3(OTOF):c.2256G>A (p.Glu752=)	LOC129933334, OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1972386	NM_194248.3(OTOF):c.1962del (p.Arg656fs)	OTOF (R656fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2434524	NM_194248.3(OTOF):c.1538A>G (p.His513Arg)	OTOF (H513R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2689644	NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)	OTOF (S220T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance