ClinVar for Gene (Select 283310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383949	NM_001378609.3(OTOGL):c.5712C>A (p.Asp1904Glu)	OTOGL (D1859E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GUncertain significance
Select item 3383056	NM_001378609.3(OTOGL):c.6501dup (p.Cys2168fs)	OTOGL (C2123fs +1 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic
Select item 3383002	NM_001378609.3(OTOGL):c.1325_1329delinsT (p.Asn442fs)	OTOGL (N442fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84B	GLikely pathogenic
Select item 3381596	NM_001378609.3(OTOGL):c.5047T>C (p.Cys1683Arg)	OTOGL (C1638R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381433	NM_001378609.3(OTOGL):c.5626G>C (p.Ala1876Pro)	OTOGL (A1831P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378171	NM_001378609.3(OTOGL):c.5781G>C (p.Trp1927Cys)	OTOGL (W1882C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376249	NM_001378609.3(OTOGL):c.1351G>C (p.Ala451Pro)	OTOGL (A451P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GUncertain significance
Select item 3375932	NM_001378609.3(OTOGL):c.3031G>A (p.Glu1011Lys)	OTOGL (E1011K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375776	NM_001378609.3(OTOGL):c.612-2A>G	OTOGL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 3373065	NM_001378609.3(OTOGL):c.5072A>T (p.Asp1691Val)	OTOGL (D1646V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369704	NM_001378609.3(OTOGL):c.3450+3A>T	OTOGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3368875	NM_001378609.3(OTOGL):c.4013C>G (p.Ser1338Cys)	OTOGL (S1293C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367249	NM_001378609.3(OTOGL):c.5869G>A (p.Val1957Ile)	OTOGL (V1912I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366255	NM_001378609.3(OTOGL):c.2616C>A (p.Asn872Lys)	OTOGL (N872K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364925	NM_001378609.3(OTOGL):c.2713C>T (p.Pro905Ser)	OTOGL (P905S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364131	NM_001378609.3(OTOGL):c.1321G>A (p.Glu441Lys)	OTOGL (E441K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363727	NM_001378609.3(OTOGL):c.1934A>G (p.Asn645Ser)	OTOGL (N645S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360412	NM_001378609.3(OTOGL):c.140G>T (p.Arg47Leu)	OTOGL (R47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358252	NM_001378609.3(OTOGL):c.2797C>T (p.Arg933Ter)	OTOGL (R933*)	Single nucleotide variant (nonsense)	OTOGL-related disorder	GLikely pathogenic
Select item 3354979	NM_001378609.3(OTOGL):c.6727T>A (p.Cys2243Ser)	OTOGL (C2198S +1 more)	Single nucleotide variant (missense variant)	OTOGL-related disorder	GUncertain significance
Select item 3352342	NM_001378609.3(OTOGL):c.5463A>G (p.Ala1821=)	OTOGL	Single nucleotide variant (synonymous variant)	OTOGL-related disorder	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 3339333	NC_000012.11:g.(80760418_80761340)_80765837del	OTOGL	Deletion	Autosomal recessive nonsyndromic hearing loss 84B	GLikely pathogenic
Select item 3337427	NM_001378609.3(OTOGL):c.5402A>C (p.Tyr1801Ser)	OTOGL (Y1756S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303649	NM_001378609.3(OTOGL):c.1205G>A (p.Cys402Tyr)	OTOGL (C402Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303648	NM_001378609.3(OTOGL):c.4901G>A (p.Ser1634Asn)	OTOGL (S1589N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3303647	NM_001378609.3(OTOGL):c.2449A>C (p.Thr817Pro)	OTOGL (T817P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303646	NM_001378609.3(OTOGL):c.1984G>A (p.Val662Met)	OTOGL (V662M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303645	NM_001378609.3(OTOGL):c.6460T>C (p.Phe2154Leu)	OTOGL (F2109L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303644	NM_001378609.3(OTOGL):c.1616T>C (p.Ile539Thr)	OTOGL (I539T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303643	NM_001378609.3(OTOGL):c.4982T>C (p.Leu1661Pro)	OTOGL (L1616P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303642	NM_001378609.3(OTOGL):c.1210C>A (p.Pro404Thr)	OTOGL (P404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303641	NM_001378609.3(OTOGL):c.2347G>C (p.Glu783Gln)	OTOGL (E783Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303640	NM_001378609.3(OTOGL):c.4838T>C (p.Ile1613Thr)	OTOGL (I1568T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256698	NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)	OTOGL (R2218* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic
Select item 3252977	NM_001378609.3(OTOGL):c.911C>A (p.Pro304Gln)	OTOGL (P304Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252933	NM_001378609.3(OTOGL):c.7015A>G (p.Met2339Val)	OTOGL (M2294V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252797	NM_001378609.3(OTOGL):c.2455T>C (p.Ser819Pro)	OTOGL (S819P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252597	NM_001378609.3(OTOGL):c.5647G>A (p.Gly1883Ser)	OTOGL (G1838S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252386	NM_001378609.3(OTOGL):c.5620C>T (p.Arg1874Cys)	OTOGL (R1829C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252281	NM_001378609.3(OTOGL):c.4675T>C (p.Ser1559Pro)	OTOGL (S1514P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250976	NM_001378609.3(OTOGL):c.6396G>A (p.Lys2132=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244448	NC_000012.11:g.(?_80750567)_(80752700_?)del	OTOGL	Deletion	not provided	GPathogenic
Select item 3244447	NC_000012.11:g.(?_80704371)_(80708131_?)del	OTOGL	Deletion	not provided	GPathogenic
Select item 3239346	NM_001378609.3(OTOGL):c.3542C>G (p.Ala1181Gly)	OTOGL (A1136G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239299	NM_001378609.3(OTOGL):c.2268G>A (p.Ser756=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3239002	NM_001378609.3(OTOGL):c.3554A>G (p.Tyr1185Cys)	OTOGL (Y1140C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238893	NM_001378609.3(OTOGL):c.5145G>A (p.Trp1715Ter)	OTOGL (W1670* +1 more)	Single nucleotide variant (nonsense)	Meniere disease	GUncertain significance
Select item 3238888	NM_001378609.3(OTOGL):c.3544G>A (p.Ala1182Thr)	OTOGL (A1137T +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238882	NM_001378609.3(OTOGL):c.3413T>G (p.Ile1138Ser)	OTOGL (I1093S +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238880	NM_001378609.3(OTOGL):c.1556C>T (p.Thr519Met)	OTOGL (T519M)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3207271	NM_001378609.3(OTOGL):c.819G>C (p.Glu273Asp)	OTOGL (E273D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3207269	NM_001378609.3(OTOGL):c.6953G>A (p.Arg2318His)	OTOGL (R2318H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207268	NM_001378609.3(OTOGL):c.6869T>C (p.Val2290Ala)	OTOGL (V2245A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207267	NM_001378609.3(OTOGL):c.6203A>G (p.Gln2068Arg)	OTOGL (Q2068R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207266	NM_001378609.3(OTOGL):c.5983C>G (p.Arg1995Gly)	OTOGL (R1995G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207265	NM_001378609.3(OTOGL):c.5364C>A (p.Asn1788Lys)	OTOGL (N1743K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207263	NM_001378609.3(OTOGL):c.5197A>G (p.Thr1733Ala)	OTOGL (T1688A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207262	NM_001378609.3(OTOGL):c.4812T>A (p.Asn1604Lys)	OTOGL (N1604K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207261	NM_001378609.3(OTOGL):c.4774T>C (p.Ser1592Pro)	OTOGL (S1547P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207260	NM_001378609.3(OTOGL):c.4573A>G (p.Ile1525Val)	OTOGL (I1480V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207259	NM_001378609.3(OTOGL):c.4403C>T (p.Thr1468Ile)	OTOGL (T1423I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207258	NM_001378609.3(OTOGL):c.4336C>T (p.Pro1446Ser)	OTOGL (P1401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207257	NM_001378609.3(OTOGL):c.3745A>T (p.Thr1249Ser)	OTOGL (T1249S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207256	NM_001378609.3(OTOGL):c.3572G>A (p.Gly1191Glu)	OTOGL (G1146E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207255	NM_001378609.3(OTOGL):c.3460A>G (p.Thr1154Ala)	OTOGL (T1109A +1 more)	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 3207252	NM_001378609.3(OTOGL):c.311C>T (p.Ala104Val)	OTOGL (A104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207251	NM_001378609.3(OTOGL):c.2777C>T (p.Pro926Leu)	OTOGL (P926L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207250	NM_001378609.3(OTOGL):c.2402G>A (p.Arg801His)	OTOGL (R801H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207249	NM_001378609.3(OTOGL):c.2294T>C (p.Leu765Pro)	OTOGL (L765P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207248	NM_001378609.3(OTOGL):c.2200T>G (p.Phe734Val)	OTOGL (F734V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207247	NM_001378609.3(OTOGL):c.2164G>A (p.Ala722Thr)	OTOGL (A722T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207246	NM_001378609.3(OTOGL):c.1877G>A (p.Arg626Lys)	OTOGL (R626K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207245	NM_001378609.3(OTOGL):c.1875A>G (p.Ile625Met)	OTOGL (I625M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3207243	NM_001378609.3(OTOGL):c.1528G>A (p.Val510Met)	OTOGL (V510M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3207241	NM_001378609.3(OTOGL):c.1306A>T (p.Thr436Ser)	OTOGL (T436S)	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 3075965	NM_001378609.3(OTOGL):c.4483_4484del (p.Gln1495fs)	OTOGL (Q1450fs +1 more)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075908	NM_001378609.3(OTOGL):c.2365_2372del (p.Glu788_Asp789insTer)	OTOGL	Deletion (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 3075884	NM_001378609.3(OTOGL):c.1567C>T (p.Gln523Ter)	OTOGL (Q523*)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 3075850	NM_001378609.3(OTOGL):c.3521_3524del (p.Glu1174fs)	OTOGL (E1129fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3065077	NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)	OTOGL (Q1536* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GConflicting classifications of pathogenicity
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063246	GRCh37/hg19 12q21.31(chr12:80696867-81266911)x1	LIN7A, MYF5 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3058053	NM_001378609.3(OTOGL):c.4199+9C>T	OTOGL	Single nucleotide variant (intron variant)	OTOGL-related disorder	GLikely benign
Select item 3051619	NM_001378609.3(OTOGL):c.1113T>C (p.His371=)	OTOGL	Single nucleotide variant (synonymous variant)	OTOGL-related disorder	GLikely benign
Select item 3048128	NM_001378609.3(OTOGL):c.1004A>G (p.Tyr335Cys)	OTOGL (Y335C)	Single nucleotide variant (missense variant)	OTOGL-related disorder	GUncertain significance
Select item 3045336	NM_001378609.3(OTOGL):c.1441+9T>C	OTOGL	Single nucleotide variant (intron variant)	OTOGL-related disorder	GLikely benign
Select item 3043153	NM_001378609.3(OTOGL):c.837C>T (p.Ile279=)	OTOGL	Single nucleotide variant (synonymous variant)	OTOGL-related disorder	GLikely benign
Select item 3039387	NM_001378609.3(OTOGL):c.4350T>C (p.Val1450=)	OTOGL	Single nucleotide variant (synonymous variant)	OTOGL-related disorder	GLikely benign
Select item 3036769	NM_001378609.3(OTOGL):c.1160-7G>C	OTOGL	Single nucleotide variant (intron variant)	OTOGL-related disorder	GLikely benign
Select item 3035528	NM_001378609.3(OTOGL):c.5037A>G (p.Thr1679=)	OTOGL	Single nucleotide variant (synonymous variant)	OTOGL-related disorder	GLikely benign
Select item 3029533	NM_001378609.3(OTOGL):c.6267+1G>T	OTOGL	Single nucleotide variant (splice donor variant)	OTOGL-related disorder	GLikely pathogenic
Select item 3023889	NM_001378609.3(OTOGL):c.5863T>C (p.Leu1955=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023185	NM_001378609.3(OTOGL):c.5051-13A>G	OTOGL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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