ClinVar for MedGen (Select 339636) - ClinVar

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Items: 48

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456541.	NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp) GRCh37: Chr16:21763762 GRCh38: Chr16:21752441	OTOA	E997D, E673D, E918D	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456532.	NM_144672.4(OTOA):c.875A>G (p.Lys292Arg) GRCh37: Chr16:21712243 GRCh38: Chr16:21700922	OTOA	K292R, K213R	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 18036973.	NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter) GRCh37: Chr16:21768541 GRCh38: Chr16:21757220	OTOA	Q1019, Q1098, Q774*	Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Dec 13, 2022)	criteria provided, single submitter
Select item 18036964.	NM_144672.4(OTOA):c.1537del (p.Ala513fs) GRCh37: Chr16:21728273 GRCh38: Chr16:21716952	OTOA	A189fs, A434fs, A513fs	Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Dec 13, 2022)	criteria provided, single submitter
Select item 18004575.	NC_000016.10:g.(?_21624041)_(21730798_?)del GRCh38: Chr16:21624041-21730798	OTOA, IGSF6, METTL9		Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995516.	NM_144672.4(OTOA):c.562_569dup (p.Phe191fs) GRCh37: Chr16:21698895-21698896 GRCh38: Chr16:21687574-21687575	OTOA	F191fs, F112fs	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17082047.	NM_144672.4(OTOA):c.2352del (p.Thr785fs) GRCh37: Chr16:21747630 GRCh38: Chr16:21736309	OTOA	T461fs, T706fs, T785fs	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17082038.	NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro) GRCh37: Chr16:21716558 GRCh38: Chr16:21705237	OTOA	L26P, L271P, L350P	Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17054769.	NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs) GRCh37: Chr16:21730455-21730456 GRCh38: Chr16:21719134-21719135	OTOA	L221fs, L466fs, L545fs	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 167933310.	NM_144672.4(OTOA):c.1792C>G (p.Leu598Val) GRCh37: Chr16:21730811 GRCh38: Chr16:21719490	OTOA	L274V, L519V, L598V	Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 146279411.	NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) GRCh37: Chr16:21721369 GRCh38: Chr16:21710048	OTOA	G422V, G98V, G343V	not provided, Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142315212.	NM_144672.4(OTOA):c.1440G>T (p.Gln480His) GRCh37: Chr16:21726425 GRCh38: Chr16:21715104	OTOA	Q156H, Q401H, Q480H	not provided, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132483213.	NM_144672.4(OTOA):c.1881-2A>G GRCh37: Chr16:21737842 GRCh38: Chr16:21726521	OTOA		Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Dec 2, 2019)	criteria provided, single submitter
Select item 132338914.	NM_144672.4(OTOA):c.399+2T>C GRCh37: Chr16:21696684 GRCh38: Chr16:21685363	OTOA		not provided	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 131914315.	NM_144672.4(OTOA):c.1249C>T (p.Leu417Phe) GRCh37: Chr16:21721353 GRCh38: Chr16:21710032	OTOA	L338F, L417F, L93F	not provided, Autosomal recessive nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 126462116.	NM_144672.4(OTOA):c.3056-23C>T GRCh37: Chr16:21764325 GRCh38: Chr16:21753004	OTOA		Autosomal recessive nonsyndromic hearing loss 22, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125281317.	NM_144672.4(OTOA):c.*47A>G GRCh37: Chr16:21771908 GRCh38: Chr16:21760587	OTOA		not provided, Autosomal recessive nonsyndromic hearing loss 22	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123793618.	NM_144672.4(OTOA):c.2302-26C>T GRCh37: Chr16:21747556 GRCh38: Chr16:21736235	OTOA		Autosomal recessive nonsyndromic hearing loss 22, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121865519.	NM_144672.4(OTOA):c.121-20G>A GRCh37: Chr16:21690337 GRCh38: Chr16:21679016	OTOA		not provided, Autosomal recessive nonsyndromic hearing loss 22	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118564620.	NM_144672.4(OTOA):c.774A>C (p.Leu258Phe) GRCh37: Chr16:21709130 GRCh38: Chr16:21697809	OTOA	L179F, L258F	Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 118511821.	NC_000016.10:g.21730837_21730930del GRCh37: Chr16:21742156-21742249 GRCh38: Chr16:21730835-21730928	OTOA		Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 118510722.	NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) GRCh37: Chr16:21728298-21728301 GRCh38: Chr16:21716977-21716980	OTOA	F197fs, F442fs, F521fs	Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 117570623.	NC_000016.9:g.(?_21623965)_(21730823_21968737)del GRCh37: Chr16:21623965-21968737	METTL9, UQCRC2, OTOA, NPIPB4, IGSF6		Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Jan 16, 2020)	criteria provided, single submitter
Select item 102916324.	NM_144672.4(OTOA):c.268-677G>A GRCh37: Chr16:21695874 GRCh38: Chr16:21684553	OTOA		Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (May 10, 2019)	criteria provided, single submitter
Select item 102916225.	NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter) GRCh37: Chr16:21737875 GRCh38: Chr16:21726554	OTOA	Q559, Q314, Q638*	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 86947926.	NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) GRCh37: Chr16:21739752 GRCh38: Chr16:21728431	OTOA	G657E, G412E, G736E	not provided, Autosomal recessive nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 68461627.	NM_144672.4(OTOA):c.1765del (p.Gln589fs) GRCh37: Chr16:21730783 GRCh38: Chr16:21719462	OTOA	Q265fs, Q589fs, Q510fs	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68273928.	NM_144672.4(OTOA):c.179+27G>A GRCh37: Chr16:21690559 GRCh38: Chr16:21679238	OTOA		not provided, Autosomal recessive nonsyndromic hearing loss 22	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67707129.	NM_144672.4(OTOA):c.1105-17G>A GRCh37: Chr16:21721192 GRCh38: Chr16:21709871	OTOA		not provided, Autosomal recessive nonsyndromic hearing loss 22	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63832830.	NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) GRCh37: Chr16:21734239 GRCh38: Chr16:21722918	OTOA	A607V, A283V, A528V	Autosomal recessive nonsyndromic hearing loss 22, not provided	Uncertain significance (Jun 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63804931.	NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) GRCh37: Chr16:21768437 GRCh38: Chr16:21757116	OTOA	P1063R, P739R, P984R	Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance	criteria provided, single submitter
Select item 63463332.	NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) GRCh37: Chr16:21734250 GRCh38: Chr16:21722929	OTOA	W611R, W532R, W287R	Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 62621433.	NM_144672.4(OTOA):c.2301+1G>T GRCh37: Chr16:21742252 GRCh38: Chr16:21730931	OTOA		Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Jan 17, 2019)	criteria provided, single submitter
Select item 62320234.	NM_144672.4(OTOA):c.2295del (p.Thr766fs) GRCh37: Chr16:21742244 GRCh38: Chr16:21730923	OTOA	T687fs, T766fs, T442fs	Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic (Apr 11, 2017)	criteria provided, single submitter
Select item 40226935.	NM_144672.4(OTOA):c.1025A>T (p.Asp342Val) GRCh37: Chr16:21716534 GRCh38: Chr16:21705213	OTOA	D342V, D18V, D263V	Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Jun 4, 2016)	no assertion criteria provided
Select item 40223536.	NM_144672.4(OTOA):c.828del (p.Ser277fs) GRCh37: Chr16:21709183 GRCh38: Chr16:21697862	OTOA	S198fs, S277fs	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 22	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22906937.	NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) GRCh37: Chr16:21690240 GRCh38: Chr16:21678919	OTOA	L32F	not specified, Autosomal recessive nonsyndromic hearing loss 22	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 21884138.	NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) GRCh37: Chr16:21747639 GRCh38: Chr16:21736318	OTOA	E787, E463, E708*	not specified, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Oct 28, 2021)	criteria provided, conflicting interpretations
Select item 21884039.	NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) GRCh37: Chr16:21747633 GRCh38: Chr16:21736312	OTOA	T785P, T461P, T706P	not specified, Autosomal recessive nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 4, 2019)	criteria provided, conflicting interpretations
Select item 17900140.	NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) GRCh37: Chr16:21721276 GRCh38: Chr16:21709955	OTOA	S391L, S312L, S67L	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 17849941.	NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) GRCh37: Chr16:21728262 GRCh38: Chr16:21716941	OTOA	V508A, V429A, V184A	not specified, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16482742.	NM_144672.4(OTOA):c.2229C>T (p.Ala743=) GRCh37: Chr16:21742179 GRCh38: Chr16:21730858	OTOA		not specified, Autosomal recessive nonsyndromic hearing loss 22	Benign (Aug 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 10065543.	NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser) GRCh37: Chr16:21734298 GRCh38: Chr16:21722977	OTOA	P627S, P548S, P303S	not provided, Autosomal recessive nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 10065444.	NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) GRCh37: Chr16:21726337 GRCh38: Chr16:21715016	OTOA	G451D, G127D, G372D	Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 22	Pathogenic/Likely pathogenic (Sep 1, 2013)	no assertion criteria provided
Select item 4795345.	NM_144672.4(OTOA):c.2238G>A (p.Thr746=) GRCh37: Chr16:21742188 GRCh38: Chr16:21730867	OTOA		not specified, Autosomal recessive nonsyndromic hearing loss 22	Benign (Aug 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 4795246.	NM_144672.4(OTOA):c.1630-5C>T GRCh37: Chr16:21730449 GRCh38: Chr16:21719128	OTOA		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 22	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 356147.	OTOA, 500-KB DEL	OTOA		Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 356048.	NM_144672.4(OTOA):c.1320+2T>C GRCh37: Chr16:21721426 GRCh38: Chr16:21710105	OTOA		Autosomal recessive nonsyndromic hearing loss 22	Pathogenic (May 28, 2019)	criteria provided, single submitter

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Items: 48