OTOG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 1222674	NC_000011.10:g.17547064A>G	OTOG	Single nucleotide variant	not provided	GBenign
Select item 228318	NM_001292063.2(OTOG):c.-14_-13delinsGA	OTOG	Indel (5 prime UTR variant)	not specified	Gnot provided
Select item 1197895	NM_001292063.2(OTOG):c.1A>G (p.Met1Val)	OTOG (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300734	NM_001292063.2(OTOG):c.13G>A (p.Ala5Thr)	OTOG (A5T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505067	NM_001292063.2(OTOG):c.14C>T (p.Ala5Val)	OTOG (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803459	NM_001292063.2(OTOG):c.15G>A (p.Ala5=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 666740	NM_001292063.2(OTOG):c.16T>C (p.Ser6Pro)	OTOG (S6P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 504776	NM_001292063.2(OTOG):c.21G>A (p.Ala7=)	OTOG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2795001	NM_001292063.2(OTOG):c.42C>T (p.Val14=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703305	NM_001292063.2(OTOG):c.49_53del (p.Pro17fs)	OTOG (P17fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1911461	NM_001292063.2(OTOG):c.50C>T (p.Pro17Leu)	OTOG (P17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969825	NM_001292063.2(OTOG):c.70G>A (p.Glu24Lys)	OTOG (E24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515578	NM_001292063.2(OTOG):c.76C>T (p.Leu26=)	OTOG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1805822	NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)	OTOG (L26Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B	GUncertain significance
Select item 1208266	NM_001292063.2(OTOG):c.93C>T (p.Leu31=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 501008	NM_001292063.2(OTOG):c.94G>A (p.Ala32Thr)	OTOG (G32S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338903	NM_001292063.2(OTOG):c.94+17C>T	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1699851	NM_001292063.2(OTOG):c.94+36C>G	OTOG (R44G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 226863	NM_001292063.2(OTOG):c.94+37G>A	OTOG (R44Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2730397	NM_001292063.2(OTOG):c.94+50C>T	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525622	NM_001292063.2(OTOG):c.94+51G>A	OTOG (V49I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1406681	NM_001292063.2(OTOG):c.94+54A>G	OTOG (K50E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710601	NM_001292063.2(OTOG):c.94+62G>A	OTOG (M52I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067645	NM_001292063.2(OTOG):c.94+74C>T	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906860	NM_001292063.2(OTOG):c.94+75G>A	OTOG (A57T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 506139	NM_001292063.2(OTOG):c.94+75G>T	OTOG (A57S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 930090	NM_001292063.2(OTOG):c.94+76C>T	OTOG (A57V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2901800	NM_001292063.2(OTOG):c.94+77G>A	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1990528	NM_001292063.2(OTOG):c.94+82_94+92del	OTOG	Deletion (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1233627	NM_001292063.2(OTOG):c.95-82C>G	OTOG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 805106	NM_001292063.2(OTOG):c.106G>A (p.Val36Ile)	OTOG (V36I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 805107	NM_001292063.2(OTOG):c.144C>G (p.Ala48=)	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1181149	NM_001292063.2(OTOG):c.148C>G (p.Gln50Glu)	OTOG (Q50E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1905287	NM_001292063.2(OTOG):c.156-34C>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529294	NM_001292063.2(OTOG):c.156-29C>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3253157	NM_001292063.2(OTOG):c.156-14C>T	OTOG (R60C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959845	NM_001292063.2(OTOG):c.168G>A (p.Gln56=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1215900	NM_001292063.2(OTOG):c.173C>T (p.Ala58Val)	OTOG (A58V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721790	NM_001292063.2(OTOG):c.209G>A (p.Gly70Glu)	OTOG (G70E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104257	NM_001292063.2(OTOG):c.215A>G (p.Gln72Arg)	OTOG (Q72R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645417	NM_001292063.2(OTOG):c.216+18A>G	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262081	NM_001292063.2(OTOG):c.216+126A>G	OTOG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216587	NM_001292063.2(OTOG):c.216+231_216+244del	OTOG	Deletion (intron variant)	not provided	GLikely benign
Select item 1213434	NM_001292063.2(OTOG):c.216+229_216+244del	OTOG	Deletion (intron variant)	not provided	GLikely benign
Select item 1211220	NM_001292063.2(OTOG):c.216+226_216+244del	OTOG	Deletion (intron variant)	not provided	GLikely benign
Select item 1203281	NM_001292063.2(OTOG):c.216+234_216+244del	OTOG	Deletion (intron variant)	not provided	GLikely benign
Select item 1175552	NM_001292063.2(OTOG):c.216+225_216+244del	OTOG	Deletion (intron variant)	not provided	GBenign
Select item 1223383	NM_001292063.2(OTOG):c.216+244T>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273330	NM_001292063.2(OTOG):c.217-218G>A	OTOG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2818529	NM_001292063.2(OTOG):c.217-14C>G	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675252	NM_001292063.2(OTOG):c.220G>A (p.Ala74Thr)	OTOG (A74T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226872	NM_001292063.2(OTOG):c.237C>T (p.Ser79=)	OTOG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2577823	NM_001292063.2(OTOG):c.238G>A (p.Val80Met)	OTOG (V80M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930159	NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp)	OTOG (R100W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 667299	NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly)	OTOG (A95G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331303	NM_001292063.2(OTOG):c.286C>G (p.Pro96Ala)	OTOG (P108A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963650	NM_001292063.2(OTOG):c.291C>T (p.Ser97=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 432317	NM_001292063.2(OTOG):c.292+4A>C	OTOG	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 226881	NM_001292063.2(OTOG):c.292+10A>T	OTOG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 227774	NM_001292063.2(OTOG):c.292+15C>T	OTOG	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1250160	NM_001292063.2(OTOG):c.292+127C>G	OTOG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194971	NM_001292063.2(OTOG):c.292+165G>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259881	NM_001292063.2(OTOG):c.293-294C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237547	NM_001292063.2(OTOG):c.293-78T>C	OTOG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1673763	NM_001292063.2(OTOG):c.293-18T>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974445	NM_001292063.2(OTOG):c.293-3C>A	OTOG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 496812	NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter)	OTOG (Y110* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GPathogenic
Select item 1678833	NM_001292063.2(OTOG):c.310A>G (p.Asn104Asp)	OTOG (N104D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666633	NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)	OTOG (N116S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2837506	NM_001292063.2(OTOG):c.330C>A (p.His110Gln)	OTOG (H110Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 229089	NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)	OTOG (A124G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1416815	NM_001292063.2(OTOG):c.352C>T (p.Arg118Cys)	OTOG (R118C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184145	NM_001292063.2(OTOG):c.353G>A (p.Arg118His)	OTOG (R130H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327635	NM_001292063.2(OTOG):c.358A>G (p.Asn120Asp)	OTOG (N120D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805108	NM_001292063.2(OTOG):c.365C>T (p.Thr122Ile)	OTOG (T134I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517609	NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)	OTOG (P136L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930109	NM_001292063.2(OTOG):c.379C>T (p.Gln127Ter)	OTOG (Q127* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 229094	NM_001292063.2(OTOG):c.385G>A (p.Val129Met)	OTOG (V141M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GConflicting classifications of pathogenicity
Select item 226893	NM_001292063.2(OTOG):c.385+7C>T	OTOG	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 227781	NM_001292063.2(OTOG):c.395C>T (p.Ala132Val)	OTOG (A144V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1579860	NM_001292063.2(OTOG):c.396C>T (p.Ala132=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417886	NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)	OTOG (G145S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 930162	NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp)	OTOG (R153W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1120071	NM_001292063.2(OTOG):c.422G>A (p.Arg141Gln)	OTOG (R141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1207691	NM_001292063.2(OTOG):c.426G>A (p.Ala142=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 817689	NM_001292063.2(OTOG):c.432del (p.Gln145fs)	OTOG (Q145fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2101823	NM_001292063.2(OTOG):c.430G>A (p.Gly144Arg)	OTOG (G144R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756460	NM_001292063.2(OTOG):c.441C>T (p.His147=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595057	NM_001292063.2(OTOG):c.450A>G (p.Thr150=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3075847	NM_001292063.2(OTOG):c.457_466del (p.Gly153fs)	OTOG (G153fs +1 more)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 505189	NM_001292063.2(OTOG):c.459G>T (p.Gly153=)	OTOG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3233968	NM_001292063.2(OTOG):c.472C>A (p.Leu158Ile)	OTOG (L158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2811362	NM_001292063.2(OTOG):c.474C>A (p.Leu158=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517465	NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn)	OTOG (T177N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 228284	NM_001292063.2(OTOG):c.499del (p.Val167fs)	OTOG (V167fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 2064991	NM_001292063.2(OTOG):c.505C>T (p.Arg169Cys)	OTOG (R181C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185111	NM_001292063.2(OTOG):c.516C>T (p.Pro172=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1704155	NM_001292063.2(OTOG):c.521_523del (p.Gly174_Gln175delinsGlu)	OTOG	Deletion (inframe_indel)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227787	NM_001292063.2(OTOG):c.527G>C (p.Ser176Thr)	OTOG (S188T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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