Related gene-specific medical variations for Gene (Select 146183) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362014	NM_144672.4(OTOA):c.698C>T (p.Ser233Phe)	OTOA (S154F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360168	NM_144672.4(OTOA):c.135T>A (p.Asp45Glu)	OTOA (D45E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360156	NM_144672.4(OTOA):c.761G>A (p.Ser254Asn)	OTOA (S175N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243674	NC_000016.9:g.(?_21690216)_(21693166_?)dup	OTOA	Duplication	not provided	GLikely pathogenic
Select item 3243673	NC_000016.9:g.(?_21690216)_(21739772_?)dup	OTOA	Duplication	not provided	GLikely pathogenic
Select item 3243672	NC_000016.9:g.(?_21716470)_(21737999_?)dup	OTOA	Duplication	not provided	GLikely pathogenic
Select item 3243670	NC_000016.9:g.(?_21726286)_(21728388_?)del	OTOA	Deletion	not provided	GPathogenic
Select item 3243669	NC_000016.9:g.(?_21689836)_(21690552_?)del	OTOA	Deletion	not provided	GPathogenic
Select item 3243668	NC_000016.9:g.(?_21709076)_(21709216_?)del	OTOA	Deletion	not provided	GPathogenic
Select item 3064760	NM_144672.4(OTOA):c.764C>G (p.Ala255Gly)	OTOA (A176G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 2684285	NM_144672.4(OTOA):c.451C>G (p.Gln151Glu)	OTOA (Q151E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807138	NM_144672.4(OTOA):c.1690G>T (p.Ala564Ser)	OTOA (A240S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801430	NM_144672.4(OTOA):c.1105-2294TTTC[6]	OTOA	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1324832	NM_144672.4(OTOA):c.1881-2A>G	OTOA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 1192296	NM_144672.4(OTOA):c.346C>T (p.Gln116Ter)	OTOA (Q116* +1 more)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive	GPathogenic
Select item 812157	NM_144672.4(OTOA):c.181T>C (p.Ser61Pro)	OTOA (S61P)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 689312	GRCh37/hg19 16p12.2(chr16:21740273-21807834)x1	OTOA	Copy number loss	not provided	GPathogenic
Select item 687324	GRCh37/hg19 16p12.2(chr16:21742365-21807834)x1	OTOA	Copy number loss	not provided	GPathogenic
Select item 687247	GRCh37/hg19 16p12.2(chr16:21741438-21797701)x1	OTOA	Copy number loss	not provided	GUncertain significance
Select item 687216	GRCh37/hg19 16p12.2(chr16:21742365-21784278)x1	OTOA	Copy number loss	not provided	GPathogenic
Select item 685246	GRCh37/hg19 16p12.2(chr16:21742365-21784278)x1	OTOA	Copy number loss	not provided	GPathogenic
Select item 3561	NC_000016.8:g.(21419562_?)_(?_21746863)del	OTOA	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic

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Links from Gene

Items: 22