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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323395	NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs)	OTOG (Y471fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1323391	NM_001292063.2(OTOG):c.2119dup (p.Glu707fs)	OTOG (E707fs +1 more)	Duplication (frameshift variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 417941	NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	OTOG (Q834* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 1324834	NM_001292063.2(OTOG):c.3682+1G>A	OTOG	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227777	NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)	OTOG (R1350W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GConflicting classifications of pathogenicity
Select item 2434526	NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)	OTOG (R1377H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GUncertain significance
Select item 2434525	NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)	OTOG (R1421W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B	GUncertain significance
Select item 1323392	NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter)	OTOG (Q1437* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1323399	NM_001292063.2(OTOG):c.4380del (p.Thr1461fs)	OTOG (T1461fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1700873	NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg)	OTOG (G1729R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324835	NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter)	OTOG (S1762* +1 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GLikely pathogenic
Select item 1323397	NM_001292063.2(OTOG):c.6068del (p.Gly2023fs)	OTOG (G2023fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 226902	NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)	OTOG (A2037V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +3 more	GConflicting classifications of pathogenicity
Select item 502189	NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met)	OTOG (V2073M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323398	NM_001292063.2(OTOG):c.6721del (p.Asp2241fs)	OTOG (D2241fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GPathogenic
Select item 229104	NC_000011.10:g.17634839_17634845dup	OTOG	Duplication (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GConflicting classifications of pathogenicity
Select item 488980	NM_001292063.2(OTOG):c.7693+1G>A	OTOG	Single nucleotide variant (splice donor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504840	NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn)	OTOG (D2721N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GUncertain significance
Select item 1481428	NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys)	OTOG (N2840K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GUncertain significance