146183[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 161018	GRCh38/hg38 16p12.2(chr16:21463739-21826230)x1	IGSF6, LOC101927814 +11 more	Copy number loss	See cases	GUncertain significance
Select item 146179	GRCh38/hg38 16p12.2(chr16:21463739-21826230)x3	IGSF6, LOC101927814 +11 more	Copy number gain	See cases	GBenign
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058720, LOC130058721 +287 more	Copy number gain	See cases	GPathogenic
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 147258	GRCh38/hg38 16p12.2(chr16:21588366-21826230)x3	IGSF6, LOC101927814 +6 more	Copy number gain	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 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	APOBR, AQP8 +280 more	Copy number gain	See cases	GPathogenic
Select item 1800457	NC_000016.10:g.(?_21624041)_(21730798_?)del	IGSF6, LOC130058625 +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
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 505764	NM_144672.3(OTOA):c.(?_-46)_(2431_?)+58del	LOC130058627, OTOA	Deletion	Rare genetic deafness	GPathogenic
Select item 1287638	NM_144672.4(OTOA):c.-4-41T>A	OTOA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178863	NM_144672.3(OTOA):c.(?_1)_(3420_?)del	LOC130058627, OTOA	Deletion	Rare genetic deafness	GPathogenic
Select item 2976176	NM_144672.4(OTOA):c.12A>G (p.Glu4=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889785	NM_144672.4(OTOA):c.18G>A (p.Thr6=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820890	NM_144672.4(OTOA):c.22_23del (p.Tyr8fs)	OTOA (Y8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2718763	NM_144672.4(OTOA):c.24C>T (p.Tyr8=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 provided +1 more	GBenign
Select item 2856169	NM_144672.4(OTOA):c.57A>C (p.Gly19=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2800906	NM_144672.4(OTOA):c.71_72del (p.Thr24fs)	OTOA (T24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2709851	NM_144672.4(OTOA):c.72A>G (p.Thr24=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994569	NM_144672.4(OTOA):c.78A>G (p.Pro26=)	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 2965745	NM_144672.4(OTOA):c.91+1G>T	OTOA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2786728	NM_144672.4(OTOA):c.91+1G>A	OTOA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2792702	NM_144672.4(OTOA):c.91+9T>C	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842999	NM_144672.4(OTOA):c.92-20A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870019	NM_144672.4(OTOA):c.92-17C>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823797	NM_144672.4(OTOA):c.92-17C>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006093	NM_144672.4(OTOA):c.92-11C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 164815	NM_144672.4(OTOA):c.92-11C>A	OTOA	Single nucleotide variant (intron variant)	not specified +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 229069	NM_144672.4(OTOA):c.96G>T (p.Leu32Phe)	OTOA (L32F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3023372	NM_144672.4(OTOA):c.103T>C (p.Leu35=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016755	NM_144672.4(OTOA):c.114C>T (p.Asn38=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399219	NM_144672.4(OTOA):c.119C>T (p.Ala40Val)	OTOA (A40V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3022644	NM_144672.4(OTOA):c.120+10del	OTOA	Deletion (intron variant)	not provided	GLikely benign
Select item 164816	NM_144672.4(OTOA):c.120+10C>G	OTOA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2755337	NM_144672.4(OTOA):c.120+12A>C	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2965528	NM_144672.4(OTOA):c.121-15C>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824029	NM_144672.4(OTOA):c.121-15C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820502	NM_144672.4(OTOA):c.121-13C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828003	NM_144672.4(OTOA):c.121-8C>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765279	NM_144672.4(OTOA):c.121-8C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985215	NM_144672.4(OTOA):c.121-4T>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697333	NM_144672.4(OTOA):c.124G>T (p.Glu42Ter)	OTOA (E42*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 178497	NM_144672.4(OTOA):c.131T>C (p.Ile44Thr)	OTOA (I44T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3001286	NM_144672.4(OTOA):c.151+13dup	OTOA	Duplication (intron variant)	not provided	GBenign
Select item 2978434	NM_144672.4(OTOA):c.151+9C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868900	NM_144672.4(OTOA):c.151+13del	OTOA	Deletion (intron variant)	not provided	GBenign
Select item 2737135	NM_144672.4(OTOA):c.151+10C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020819	NM_144672.4(OTOA):c.151+16G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002713	NM_144672.4(OTOA):c.151+17A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787489	NM_144672.4(OTOA):c.151+18T>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655681	NM_144672.4(OTOA):c.152-18A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 289437	NM_144672.4(OTOA):c.175C>A (p.Gln59Lys)	OTOA (Q59K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742984	NM_144672.4(OTOA):c.179+12T>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755745	NM_144672.4(OTOA):c.179+19G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998860	NM_144672.4(OTOA):c.179+20A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682739	NM_144672.4(OTOA):c.179+27G>A	OTOA	Single nucleotide variant (intron variant)	not provided +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 2992441	NM_144672.4(OTOA):c.180-18G>A	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977231	NM_144672.4(OTOA):c.180-18G>T	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963812	NM_144672.4(OTOA):c.180-18G>C	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956068	NM_144672.4(OTOA):c.180-15T>C	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012392	NM_144672.4(OTOA):c.180-14G>C	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505255	NM_144672.4(OTOA):c.180-12C>T	OTOA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2872182	NM_144672.4(OTOA):c.180-8A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746708	NM_144672.4(OTOA):c.180-1del	OTOA	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 812157	NM_144672.4(OTOA):c.181T>C (p.Ser61Pro)	OTOA (S61P)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 2967349	NM_144672.4(OTOA):c.186C>T (p.His62=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179062	NM_144672.4(OTOA):c.194C>T (p.Thr65Met)	OTOA (T65M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3010350	NM_144672.4(OTOA):c.195G>A (p.Thr65=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962307	NM_144672.4(OTOA):c.209A>G (p.His70Arg)	OTOA (H70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858549	NM_144672.4(OTOA):c.222C>T (p.Ala74=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845981	NM_144672.4(OTOA):c.228G>A (p.Leu76=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505417	NM_144672.4(OTOA):c.232T>C (p.Ser78Pro)	OTOA (S78P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445874	NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)	OTOA (R79Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1050177	NM_144672.4(OTOA):c.244G>A (p.Ala82Thr)	OTOA (A82T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895228	NM_144672.4(OTOA):c.255C>T (p.Ile85=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874157	NM_144672.4(OTOA):c.262C>T (p.Leu88=)	OTOA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839499	NM_144672.4(OTOA):c.267+1G>C	OTOA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2838321	NM_144672.4(OTOA):c.267+8C>T	OTOA	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2786733	NM_144672.4(OTOA):c.267+12A>G	OTOA	Single nucleotide variant (intron variant)	not provided	GLikely benign

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