OTOGL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 154657	GRCh38/hg38 12q21.31(chr12:80195590-80500002)x1	OTOGL, PTPRQ	Copy number loss	See cases	GUncertain significance
Select item 1324838	NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)	OTOGL (M10V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic/Likely pathogenic
Select item 291136	NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr)	OTOGL (P3T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 667385	NM_001378609.3(OTOGL):c.39G>A (p.Trp13Ter)	OTOGL (W4* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 2274664	NM_001378609.3(OTOGL):c.55C>T (p.His19Tyr)	OTOGL (H19Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 817079	NM_001378609.3(OTOGL):c.63del (p.Leu22fs)	OTOGL (L22fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84B +1 more	GPathogenic/Likely pathogenic
Select item 2542369	NM_001378609.3(OTOGL):c.78A>T (p.Gln26His)	OTOGL (Q26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1190428	NM_001378609.3(OTOGL):c.79+5G>A	OTOGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982520	NM_001378609.3(OTOGL):c.79+11A>T	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274148	NM_001378609.3(OTOGL):c.79+116A>T	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178823	NM_001378609.3(OTOGL):c.79+129A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219207	NM_001378609.3(OTOGL):c.80-298A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504789	NM_001378609.3(OTOGL):c.93A>G (p.Ala31=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1519086	NM_001378609.3(OTOGL):c.95C>T (p.Ser32Leu)	OTOGL (S32L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B +2 more	GUncertain significance
Select item 1200353	NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val)	OTOGL (I34V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3207270	NM_001378609.3(OTOGL):c.104T>C (p.Leu35Ser)	OTOGL (L35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330456	NM_001378609.3(OTOGL):c.115T>C (p.Ser39Pro)	OTOGL (S39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076007	NM_001378609.3(OTOGL):c.119+1G>A	OTOGL	Single nucleotide variant (splice donor variant)	Rare genetic deafness	GLikely pathogenic
Select item 1436246	NM_001378609.3(OTOGL):c.119+6T>C	OTOGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 227827	NM_001378609.3(OTOGL):c.119+7A>G	OTOGL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1211128	NM_001378609.3(OTOGL):c.119+101A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267402	NM_001378609.3(OTOGL):c.119+134A>C	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197396	NM_001378609.3(OTOGL):c.119+237T>C	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919027	NM_001378609.3(OTOGL):c.123C>T (p.Asn41=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1211910	NM_001378609.3(OTOGL):c.124G>A (p.Gly42Arg)	OTOGL (G42R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2890293	NM_001378609.3(OTOGL):c.126G>A (p.Gly42=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2114912	NM_001378609.3(OTOGL):c.152C>T (p.Ala51Val)	OTOGL (A51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207242	NM_001378609.3(OTOGL):c.161C>A (p.Ala54Glu)	OTOGL (A54E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202932	NM_001378609.3(OTOGL):c.168+54G>A	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3342429	NM_001378609.3(OTOGL):c.169-12T>C	OTOGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1223729	NM_001378609.3(OTOGL):c.169-8T>C	OTOGL	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1407514	NM_001378609.3(OTOGL):c.169-7T>A	OTOGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2845456	NM_001378609.3(OTOGL):c.201T>C (p.His67=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998687	NM_001378609.3(OTOGL):c.202G>A (p.Asp68Asn)	OTOGL (D68N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504841	NM_001378609.3(OTOGL):c.214T>C (p.Trp72Arg)	OTOGL (W63R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2702700	NM_001378609.3(OTOGL):c.231A>C (p.Ile77=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1261899	NM_001378609.3(OTOGL):c.235+277C>T	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260781	NM_001378609.3(OTOGL):c.236-10dup	OTOGL	Duplication (intron variant)	not provided	GBenign
Select item 1198051	NM_001378609.3(OTOGL):c.236-10del	OTOGL	Deletion (intron variant)	not provided	GLikely benign
Select item 2700904	NM_001378609.3(OTOGL):c.236-17_236-16insC	OTOGL	Insertion (intron variant)	not provided	GLikely benign
Select item 714540	NM_001378609.3(OTOGL):c.236-5dup	OTOGL	Duplication (intron variant)	not specified +1 more	GBenign
Select item 669384	NM_001378609.3(OTOGL):c.236-10T>C	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730011	NM_001378609.3(OTOGL):c.236-9C>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706088	NM_001378609.3(OTOGL):c.236-3C>T	OTOGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 667305	NM_001378609.3(OTOGL):c.236-2A>G	OTOGL	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 84B +2 more	GConflicting classifications of pathogenicity
Select item 229112	NM_001378609.3(OTOGL):c.242G>A (p.Cys81Tyr)	OTOGL (C72Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761238	NM_001378609.3(OTOGL):c.255C>T (p.Cys85=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1178132	NM_001378609.3(OTOGL):c.264A>T (p.Gly88=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335829	NM_001378609.3(OTOGL):c.283G>A (p.Gly95Arg)	OTOGL (G95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357855	NM_001378609.3(OTOGL):c.293A>G (p.Asp98Gly)	OTOGL (D98G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3207252	NM_001378609.3(OTOGL):c.311C>T (p.Ala104Val)	OTOGL (A104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1503081	NM_001378609.3(OTOGL):c.320C>T (p.Thr107Ile)	OTOGL (T107I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613954	NM_001378609.3(OTOGL):c.324A>T (p.Arg108Ser)	OTOGL (R108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207253	NM_001378609.3(OTOGL):c.325T>C (p.Cys109Arg)	OTOGL (C109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1066218	NM_001378609.3(OTOGL):c.334+1G>C	OTOGL	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1203540	NM_001378609.3(OTOGL):c.334+61A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226461	NM_001378609.3(OTOGL):c.334+190A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268108	NM_001378609.3(OTOGL):c.334+265dup	OTOGL	Duplication (intron variant)	not provided	GBenign
Select item 517312	NM_001378609.3(OTOGL):c.335-9del	OTOGL	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226938	NM_001378609.3(OTOGL):c.343A>C (p.Met115Leu)	OTOGL (M106L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2540707	NM_001378609.3(OTOGL):c.345G>T (p.Met115Ile)	OTOGL (M115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012828	NM_001378609.3(OTOGL):c.351C>T (p.Asn117=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980781	NM_001378609.3(OTOGL):c.402C>T (p.Phe134=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477959	NM_001378609.3(OTOGL):c.403G>T (p.Asp135Tyr)	OTOGL (D135Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150320	NM_001378609.3(OTOGL):c.423C>T (p.Phe141=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295317	NM_001378609.3(OTOGL):c.442A>G (p.Ile148Val)	OTOGL (I148V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930164	NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr)	OTOGL (D152Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1715922	NM_001378609.3(OTOGL):c.457T>A (p.Cys153Ser)	OTOGL (C153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504842	NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp)	OTOGL (R150W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B +3 more	GUncertain significance
Select item 1274864	NM_001378609.3(OTOGL):c.489+230A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231860	NM_001378609.3(OTOGL):c.489+263G>A	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286484	NM_001378609.3(OTOGL):c.490-338G>A	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269603	NM_001378609.3(OTOGL):c.490-43A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305292	NM_001378609.3(OTOGL):c.512T>G (p.Leu171Arg)	OTOGL (L171R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375571	NM_001378609.3(OTOGL):c.515G>T (p.Gly172Val)	OTOGL (G172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504843	NM_001378609.3(OTOGL):c.518C>T (p.Ser173Leu)	OTOGL (S164L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 504790	NM_001378609.3(OTOGL):c.519G>A (p.Ser173=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 423818	NM_001378609.3(OTOGL):c.535C>T (p.Arg179Trp)	OTOGL (R170W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39779	NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)	OTOGL (R192*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2386791	NM_001378609.3(OTOGL):c.575G>A (p.Arg192Gln)	OTOGL (R192Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202389	NM_001378609.3(OTOGL):c.611+259TC[5]	OTOGL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3375776	NM_001378609.3(OTOGL):c.612-2A>G	OTOGL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 504897	NM_001378609.3(OTOGL):c.647T>C (p.Ile216Thr)	OTOGL (I207T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499881	NM_001378609.3(OTOGL):c.663C>A (p.Asp221Glu)	OTOGL (D221E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226974	NM_001378609.3(OTOGL):c.708C>T (p.Asp236=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2101007	NM_001378609.3(OTOGL):c.715T>C (p.Ser239Pro)	OTOGL (S239P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604330	NM_001378609.3(OTOGL):c.741G>C (p.Glu247Asp)	OTOGL (E247D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695659	NM_001378609.3(OTOGL):c.743A>C (p.Asp248Ala)	OTOGL (D248A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605610	NM_001378609.3(OTOGL):c.763G>C (p.Gly255Arg)	OTOGL (G255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1437685	NM_001378609.3(OTOGL):c.766C>G (p.Leu256Val)	OTOGL (L256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683209	NM_001378609.3(OTOGL):c.782A>G (p.Asn261Ser)	OTOGL (N261S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504791	NM_001378609.3(OTOGL):c.792A>G (p.Gln264=)	OTOGL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1307443	NM_001378609.3(OTOGL):c.809T>A (p.Ile270Asn)	OTOGL (I270N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2281626	NM_001378609.3(OTOGL):c.815A>T (p.Gln272Leu)	OTOGL (Q272L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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