"Deafness Molecular Diagnostic Center, Chinese PLA General Hospital"[s - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703045	NM_194248.3(OTOF):c.5833del (p.Ile1945fs)	OTOF (I1178fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185621	NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)	OTOF (G1090D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185631	NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)	OTOF (G1020D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185622	NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)	OTOF (I1048del +2 more)	Microsatellite (inframe_deletion)	Auditory neuropathy	GLikely pathogenic
Select item 1185682	NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly)	OTOF, LOC112840921	Indel (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703040	NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)	OTOF (V1498E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703050	NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)	OTOF (K1374fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703046	NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)	OTOF (S1225C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703047	NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)	OTOF (L1198fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185082	NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter)	OTOF (C248* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703044	NM_194248.3(OTOF):c.2407-2del	OTOF	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703051	NM_194248.3(OTOF):c.2215-1G>C	OTOF (Q48H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
Select item 1185651	NM_194248.3(OTOF):c.1962dup (p.Pro655fs)	OTOF (P655fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185650	NM_194248.3(OTOF):c.1912+5G>C	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703049	NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)	OTOF (W478R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185627	NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs)	OTOF (Y455fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703048	NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)	OTOF (Q255P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic