"GeneDx"[submitter] AND "OTOA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145773	GRCh38/hg38 16p12.2(chr16:21483549-21851072)x3	LOC130058626, LOC130058627 +12 more	Copy number gain	See cases	GBenign
Select item 152604	GRCh38/hg38 16p12.2(chr16:21525609-21826171)x1	IGSF6, LOC101927814 +8 more	Copy number loss	See cases	GBenign
Select item 57546	GRCh38/hg38 16p12.2(chr16:21561057-21810544)x1	IGSF6, LOC101927814 +6 more	Copy number loss	See cases	GUncertain significance
Select item 151586	GRCh38/hg38 16p12.2(chr16:21585329-21717046)x1	IGSF6, LOC101927814 +6 more	Copy number loss	See cases	GBenign
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 57548	GRCh38/hg38 16p12.2(chr16:21600992-21726646)x1	IGSF6, LOC130058625 +4 more	Copy number loss	See cases	GUncertain significance
Select item 57547	GRCh38/hg38 16p12.2(chr16:21600992-21740688)x1	IGSF6, LOC130058625 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1205134	NM_144672.4(OTOA):c.-4-261A>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238600	NM_144672.4(OTOA):c.-4-103AT[8]	OTOA	Microsatellite (intron variant)	not provided	GBenign
Select item 1207013	NM_144672.4(OTOA):c.-4-103AT[6]	OTOA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1236082	NM_144672.4(OTOA):c.-4-58_-4-57insAT	OTOA	Insertion (intron variant)	not provided	GBenign
Select item 1259589	NM_144672.4(OTOA):c.-4-57G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287638	NM_144672.4(OTOA):c.-4-41T>A	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446122	NM_144672.4(OTOA):c.28C>T (p.Leu10Phe)	OTOA (L10F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47954	NM_144672.4(OTOA):c.44T>A (p.Phe15Tyr)	OTOA (F15Y)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1314007	NM_144672.4(OTOA):c.57A>T (p.Gly19=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 669024	NM_144672.4(OTOA):c.63G>A (p.Ser21=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303796	NM_144672.4(OTOA):c.86G>A (p.Arg29Lys)	OTOA (R29K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 164815	NM_144672.4(OTOA):c.92-11C>A	OTOA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 489139	NM_144672.4(OTOA):c.92-1G>T	OTOA	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 2430528	NM_144672.4(OTOA):c.92A>T (p.Asp31Val)	OTOA (D31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218655	NM_144672.4(OTOA):c.121-20G>A	OTOA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 178497	NM_144672.4(OTOA):c.131T>C (p.Ile44Thr)	OTOA (I44T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 682739	NM_144672.4(OTOA):c.179+27G>A	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GBenign
Select item 1286184	NM_144672.4(OTOA):c.179+253C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2179062	NM_144672.4(OTOA):c.194C>T (p.Thr65Met)	OTOA (T65M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445874	NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)	OTOA (R79Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1244550	NM_144672.4(OTOA):c.268-92dup	OTOA	Duplication (intron variant)	not provided	GBenign
Select item 1197571	NM_144672.4(OTOA):c.268-27C>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707812	NM_144672.4(OTOA):c.296G>A (p.Arg99His)	OTOA (R20H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312586	NM_144672.4(OTOA):c.327C>A (p.Asp109Glu)	OTOA (D109E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696943	NM_144672.4(OTOA):c.377T>C (p.Leu126Ser)	OTOA (L126S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698018	NM_144672.4(OTOA):c.391G>T (p.Asp131Tyr)	OTOA (D131Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293876	NM_144672.4(OTOA):c.400-327C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684123	NM_144672.4(OTOA):c.400-61C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372915	NM_144672.4(OTOA):c.412ATC[2] (p.Ile140del)	OTOA (I140del +1 more)	Microsatellite	not provided	GUncertain significance
Select item 1710740	NM_144672.4(OTOA):c.523G>A (p.Glu175Lys)	OTOA (E175K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800713	NM_144672.4(OTOA):c.532G>A (p.Glu178Lys)	OTOA (E178K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375738	NM_144672.4(OTOA):c.605G>A (p.Arg202Gln)	OTOA (R123Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 229068	NM_144672.4(OTOA):c.605G>C (p.Arg202Pro)	OTOA (R202P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 47955	NM_144672.4(OTOA):c.615C>T (p.Arg205=)	OTOA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 508608	NM_144672.4(OTOA):c.618G>A (p.Glu206=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1180092	NM_144672.4(OTOA):c.635+5G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1703413	NM_144672.4(OTOA):c.635+36_635+37del	OTOA	Deletion (intron variant)	not provided	GLikely benign
Select item 1243657	NM_144672.4(OTOA):c.635+37del	OTOA	Deletion (intron variant)	not provided	GBenign
Select item 1220907	NM_144672.4(OTOA):c.635+270C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222495	NM_144672.4(OTOA):c.635+317C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279348	NM_144672.4(OTOA):c.636-35T>G	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504650	NM_144672.4(OTOA):c.661G>A (p.Asp221Asn)	OTOA (D221N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1338964	NM_144672.4(OTOA):c.671C>T (p.Ser224Leu)	OTOA (S145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985425	NM_144672.4(OTOA):c.680C>A (p.Ser227Tyr)	OTOA (S148Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2502006	NM_144672.4(OTOA):c.731A>T (p.Asn244Ile)	OTOA (N165I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224565	NM_144672.4(OTOA):c.739+291G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180967	NM_144672.4(OTOA):c.740-288G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233051	NM_144672.4(OTOA):c.740-287C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365400	NM_144672.4(OTOA):c.740-5T>A	OTOA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 228383	NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs)	OTOA (S249fs +1 more)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 252785	NM_144672.4(OTOA):c.755G>A (p.Trp252Ter)	OTOA (W252* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1211359	NM_144672.4(OTOA):c.840A>G (p.Glu280=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1220459	NM_144672.4(OTOA):c.840+222G>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269606	NM_144672.4(OTOA):c.841-150_841-149dup	OTOA	Duplication (intron variant)	not provided	GBenign
Select item 1204122	NM_144672.4(OTOA):c.841-151_841-149dup	OTOA	Duplication (intron variant)	not provided	GLikely benign
Select item 1208288	NM_144672.4(OTOA):c.841-149del	OTOA	Deletion (intron variant)	not provided	GLikely benign
Select item 2589100	NM_144672.4(OTOA):c.889G>T (p.Val297Phe)	OTOA (V297F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290810	NM_144672.4(OTOA):c.921G>A (p.Ala307=)	OTOA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 669180	NM_144672.4(OTOA):c.980+6C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260985	NM_144672.4(OTOA):c.980+78C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194215	NM_144672.4(OTOA):c.981-238C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253999	NM_144672.4(OTOA):c.981-188T>A	OTOA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1205691	NM_144672.4(OTOA):c.981-171C>T	OTOA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2429626	NM_144672.4(OTOA):c.1007A>G (p.Asn336Ser)	OTOA (N12S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804351	NM_144672.4(OTOA):c.1026T>A (p.Asp342Glu)	OTOA (D18E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252199	NM_144672.4(OTOA):c.1037C>A (p.Ala346Asp)	OTOA (A22D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536587	NM_144672.4(OTOA):c.1058T>C (p.Met353Thr)	OTOA (M29T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288936	NM_144672.4(OTOA):c.1090G>A (p.Ala364Thr)	OTOA (A364T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164817	NM_144672.4(OTOA):c.1095C>T (p.Gly365=)	OTOA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2580577	NM_144672.4(OTOA):c.1104+4C>G	OTOA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1250077	NM_144672.4(OTOA):c.1105-195A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194954	NM_144672.4(OTOA):c.1105-28C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677071	NM_144672.4(OTOA):c.1105-17G>A	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GBenign/Likely benign
Select item 1214844	NM_144672.4(OTOA):c.1125C>T (p.Asp375=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 178846	NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)	OTOA (Q381E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 179001	NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	OTOA (S391L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 1194317	NM_144672.4(OTOA):c.1221del (p.Glu408fs)	OTOA (E329fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 677072	NM_144672.4(OTOA):c.1320+69G>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199740	NM_144672.4(OTOA):c.1321-13G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040684	NM_144672.4(OTOA):c.1337A>G (p.Asn446Ser)	OTOA (N122S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 618771	NM_144672.4(OTOA):c.1399C>T (p.Arg467Cys)	OTOA (R467C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199850	NM_144672.4(OTOA):c.1424G>A (p.Arg475Lys)	OTOA (R151K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 668644	NM_144672.4(OTOA):c.1437C>A (p.Ser479=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1186950	NM_144672.4(OTOA):c.1449C>T (p.Ser483=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1187405	NM_144672.4(OTOA):c.1488+34T>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245911	NM_144672.4(OTOA):c.1488+256G>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245400	NM_144672.4(OTOA):c.1488+290dup	OTOA	Duplication (intron variant)	not provided	GBenign
Select item 1248261	NM_144672.4(OTOA):c.1488+291G>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282601	NM_144672.4(OTOA):c.1489-139G>C	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278600	NM_144672.4(OTOA):c.1489-99del	OTOA	Deletion (intron variant)	not provided	GBenign
Select item 1265794	NM_144672.4(OTOA):c.1489-99G>T	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197182	NM_144672.4(OTOA):c.1489-14C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504520	NM_144672.4(OTOA):c.1522G>A (p.Val508Met)	OTOA (V508M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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